Canonical Allele Identifier: CA483262107

Gene: BRCA2

Linked Data

• dbSNP Id: rs773533016
• MyVariant Identifiers: chr13:g.32954242G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380105G>C , CM000675.2:g.32380105G>C	GRCh38
NC_000013.10:g.32954242G>C , CM000675.1:g.32954242G>C	GRCh37
NC_000013.9:g.31852242G>C	NCBI36
NG_012772.3:g.69626G>C , LRG_293:g.69626G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9216G>C	ENSP00000434898.2:p.Val3072=
ENST00000528762.2:c.*583G>C	ENSP00000433168.2:n.*583G>C
ENST00000530893.7:c.8847G>C	ENSP00000499438.2:p.Val2949=
ENST00000665585.2:c.*778G>C	ENSP00000499570.2:n.*778G>C
ENST00000666593.2:c.9216G>C	ENSP00000499256.2:p.Val3072=
ENST00000700202.2:c.9165G>C	ENSP00000514856.2:p.Val3055=
ENST00000700202.1:c.1632G>C	ENSP00000514856.1:p.Val544=
ENST00000700203.1:n.1343G>C
ENST00000380152.8:c.9216G>C MANE Select	ENSP00000369497.3:p.Val3072=
ENST00000544455.6:c.9216G>C	ENSP00000439902.1:p.Val3072=
ENST00000614259.2:c.9224G>C	ENSP00000506251.1:n.9224G>C
ENST00000665585.1:c.2094G>C
ENST00000666593.1:c.99G>C	ENSP00000499256.1:p.Val33=
ENST00000680887.1:c.9216G>C	ENSP00000505508.1:p.Val3072=
ENST00000380152.7:c.9216G>C	ENSP00000369497.3:p.Val3072=
ENST00000470094.1:c.173G>C
ENST00000544455.5:c.9216G>C	ENSP00000439902.1:p.Val3072=
NM_000059.3:c.9216G>C , LRG_293t1:c.9216G>C	NP_000050.2:p.Val3072=
XM_011535203.1:c.9216G>C	XP_011533505.1:p.Val3072=
XM_011535204.1:c.9120G>C	XP_011533506.1:p.Val3040=
NM_000059.4:c.9216G>C MANE Select	NP_000050.3:p.Val3072=