[Term]
id: PR:000063424
name: breast cancer type 2 susceptibility protein sequence variant G2748D (human)
def: "A breast cancer type 2 susceptibility protein (human) that has an Asp residue at the position equivalent to Gly-2748 of the amino acid sequence represented by UniProtKB:P51587. UniProtKB:P51587, Gly-2748, CHEBI:29958." [PRO:DNx, Reactome:R-HSA-9763219]
comment: Category=organism-sequence.
synonym: "hBRCA2/var:G2748D" EXACT PRO-short-label [PRO:DNx]
synonym: "BRCA2 G2748D" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9763219]
synonym: "UniProtKB:P51587, Gly-2748, CHEBI:29958" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9763219 "PR:000063424 located_in GO:0005829"
is_a: PR:P51587 ! breast cancer type 2 susceptibility protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens