Canonical Allele Identifier: CA025759
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38175
dbSNP Id: rs80359122

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376684C>T , CM000675.2:g.32376684C>T GRCh38
NC_000013.10:g.32950821C>T , CM000675.1:g.32950821C>T GRCh37
NC_000013.9:g.31848821C>T NCBI36
NG_012772.3:g.66205C>T , LRG_293:g.66205C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8647C>T ENSP00000434898.2:p.Pro2883Ser
ENST00000528762.2:c.*14C>T ENSP00000433168.2:n.*14C>T
ENST00000530893.7:c.8278C>T ENSP00000499438.2:p.Pro2760Ser
ENST00000665585.2:c.*209C>T ENSP00000499570.2:n.*209C>T
ENST00000666593.2:c.8647C>T ENSP00000499256.2:p.Pro2883Ser
ENST00000700202.2:c.8647C>T ENSP00000514856.2:p.Pro2883Ser
ENST00000700202.1:c.1114C>T ENSP00000514856.1:p.Pro372Ser
ENST00000700203.1:n.774C>T
ENST00000380152.8:c.8647C>T MANE Select ENSP00000369497.3:p.Pro2883Ser
ENST00000544455.6:c.8647C>T ENSP00000439902.1:p.Pro2883Ser
ENST00000614259.2:c.8655C>T ENSP00000506251.1:n.8655C>T
ENST00000665585.1:c.1525C>T
ENST00000680887.1:c.8647C>T ENSP00000505508.1:p.Pro2883Ser
ENST00000380152.7:c.8647C>T ENSP00000369497.3:p.Pro2883Ser
ENST00000528762.1:c.209C>T ENSP00000433168.1:n.209C>T
ENST00000544455.5:c.8647C>T ENSP00000439902.1:p.Pro2883Ser
NM_000059.3:c.8647C>T , LRG_293t1:c.8647C>T NP_000050.2:p.Pro2883Ser
XM_011535203.1:c.8647C>T XP_011533505.1:p.Pro2883Ser
XM_011535204.1:c.8551C>T XP_011533506.1:p.Pro2851Ser
XM_011535205.1:c.8647C>T XP_011533507.1:p.Pro2883Ser
NM_000059.4:c.8647C>T MANE Select NP_000050.3:p.Pro2883Ser