Canonical Allele Identifier: CA387758382

Gene: BRCA2

Linked Data

• dbSNP Id: rs80359184
• MyVariant Identifiers: chr13:g.32954239G>C (hg19) ; chr13:g.32380102G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380102G>C , CM000675.2:g.32380102G>C	GRCh38
NC_000013.10:g.32954239G>C , CM000675.1:g.32954239G>C	GRCh37
NC_000013.9:g.31852239G>C	NCBI36
NG_012772.3:g.69623G>C , LRG_293:g.69623G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9213G>C	ENSP00000434898.2:p.Glu3071Asp
ENST00000528762.2:c.*580G>C	ENSP00000433168.2:n.*580G>C
ENST00000530893.7:c.8844G>C	ENSP00000499438.2:p.Glu2948Asp
ENST00000665585.2:c.*775G>C	ENSP00000499570.2:n.*775G>C
ENST00000666593.2:c.9213G>C	ENSP00000499256.2:p.Glu3071Asp
ENST00000700202.2:c.9162G>C	ENSP00000514856.2:p.Glu3054Asp
ENST00000700202.1:c.1629G>C	ENSP00000514856.1:p.Glu543Asp
ENST00000700203.1:n.1340G>C
ENST00000380152.8:c.9213G>C MANE Select	ENSP00000369497.3:p.Glu3071Asp
ENST00000544455.6:c.9213G>C	ENSP00000439902.1:p.Glu3071Asp
ENST00000614259.2:c.9221G>C	ENSP00000506251.1:n.9221G>C
ENST00000665585.1:c.2091G>C
ENST00000666593.1:c.96G>C	ENSP00000499256.1:p.Glu32Asp
ENST00000680887.1:c.9213G>C	ENSP00000505508.1:p.Glu3071Asp
ENST00000380152.7:c.9213G>C	ENSP00000369497.3:p.Glu3071Asp
ENST00000470094.1:c.170G>C
ENST00000544455.5:c.9213G>C	ENSP00000439902.1:p.Glu3071Asp
NM_000059.3:c.9213G>C , LRG_293t1:c.9213G>C	NP_000050.2:p.Glu3071Asp
XM_011535203.1:c.9213G>C	XP_011533505.1:p.Glu3071Asp
XM_011535204.1:c.9117G>C	XP_011533506.1:p.Glu3039Asp
NM_000059.4:c.9213G>C MANE Select	NP_000050.3:p.Glu3071Asp