Canonical Allele Identifier: CA387754664

Gene: BRCA2

Linked Data

• dbSNP Id: rs80359122
• MyVariant Identifiers: chr13:g.32950821C>A (hg19) ; chr13:g.32376684C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8647C>A	ENSP00000434898.2:p.Pro2883Thr
ENST00000528762.2:c.*14C>A	ENSP00000433168.2:n.*14C>A
ENST00000530893.7:c.8278C>A	ENSP00000499438.2:p.Pro2760Thr
ENST00000665585.2:c.*209C>A	ENSP00000499570.2:n.*209C>A
ENST00000666593.2:c.8647C>A	ENSP00000499256.2:p.Pro2883Thr
ENST00000700202.2:c.8647C>A	ENSP00000514856.2:p.Pro2883Thr
ENST00000700202.1:c.1114C>A	ENSP00000514856.1:p.Pro372Thr
ENST00000700203.1:n.774C>A
ENST00000380152.8:c.8647C>A MANE Select	ENSP00000369497.3:p.Pro2883Thr
ENST00000544455.6:c.8647C>A	ENSP00000439902.1:p.Pro2883Thr
ENST00000614259.2:c.8655C>A	ENSP00000506251.1:n.8655C>A
ENST00000665585.1:c.1525C>A
ENST00000680887.1:c.8647C>A	ENSP00000505508.1:p.Pro2883Thr
ENST00000380152.7:c.8647C>A	ENSP00000369497.3:p.Pro2883Thr
ENST00000528762.1:c.209C>A	ENSP00000433168.1:n.209C>A
ENST00000544455.5:c.8647C>A	ENSP00000439902.1:p.Pro2883Thr
NM_000059.3:c.8647C>A , LRG_293t1:c.8647C>A	NP_000050.2:p.Pro2883Thr
XM_011535203.1:c.8647C>A	XP_011533505.1:p.Pro2883Thr
XM_011535204.1:c.8551C>A	XP_011533506.1:p.Pro2851Thr
XM_011535205.1:c.8647C>A	XP_011533507.1:p.Pro2883Thr
NM_000059.4:c.8647C>A MANE Select	NP_000050.3:p.Pro2883Thr