Canonical Allele Identifier: CA247478056

Gene: BRCA2

Linked Data

• dbSNP Id: rs1008548913
• gnomAD v3: 13-32315516-A-C
• gnomAD v4: 13-32315516-A-C
• MyVariant Identifiers: chr13:g.32889653A>C (hg19) ; chr13:g.32315516A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315516A>C , CM000675.2:g.32315516A>C	GRCh38
NC_000013.10:g.32889653A>C , CM000675.1:g.32889653A>C	GRCh37
NC_000013.9:g.31787653A>C	NCBI36
NG_012772.3:g.5037A>C , LRG_293:g.5037A>C
NG_017006.1:g.1439T>G
NG_017006.2:g.4848T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-191A>C	ENSP00000434898.2:n.-191A>C
ENST00000528762.2:c.-191A>C	ENSP00000433168.2:n.-191A>C
ENST00000530893.7:c.-556A>C	ENSP00000499438.2:n.-556A>C
ENST00000665585.2:c.-191A>C	ENSP00000499570.2:n.-191A>C
ENST00000666593.2:c.-191A>C	ENSP00000499256.2:n.-191A>C
ENST00000700202.2:c.-191A>C	ENSP00000514856.2:n.-191A>C
ENST00000380152.8:c.-191A>C MANE Select	ENSP00000369497.3:n.-191A>C
ENST00000544455.6:c.-40+371A>C	ENSP00000439902.1:n.-40+371A>C
ENST00000380152.7:c.-191A>C	ENSP00000369497.3:n.-191A>C
ENST00000530893.6:n.12A>C
ENST00000544455.5:c.-191A>C	ENSP00000439902.1:n.-191A>C
NM_000059.3:c.-191A>C , LRG_293t1:c.-191A>C	NP_000050.2:n.-191A>C
XM_011535203.1:c.-40+371A>C	XP_011533505.1:n.-40+371A>C
XM_011535204.1:c.-191A>C	XP_011533506.1:n.-191A>C
XM_011535205.1:c.-191A>C	XP_011533507.1:n.-191A>C
NM_000059.4:c.-191A>C MANE Select	NP_000050.3:n.-191A>C