Canonical Allele Identifier: CA697323766

Gene: BRCA2

Linked Data

• dbSNP Id: rs1220101243
• gnomAD v3: 13-32315521-C-G
• gnomAD v4: 13-32315521-C-G
• MyVariant Identifiers: chr13:g.32889658C>G (hg19) ; chr13:g.32315521C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315521C>G , CM000675.2:g.32315521C>G	GRCh38
NC_000013.10:g.32889658C>G , CM000675.1:g.32889658C>G	GRCh37
NC_000013.9:g.31787658C>G	NCBI36
NG_012772.3:g.5042C>G , LRG_293:g.5042C>G
NG_017006.1:g.1434G>C
NG_017006.2:g.4843G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-186C>G	ENSP00000434898.2:n.-186C>G
ENST00000528762.2:c.-186C>G	ENSP00000433168.2:n.-186C>G
ENST00000530893.7:c.-551C>G	ENSP00000499438.2:n.-551C>G
ENST00000665585.2:c.-186C>G	ENSP00000499570.2:n.-186C>G
ENST00000666593.2:c.-186C>G	ENSP00000499256.2:n.-186C>G
ENST00000700202.2:c.-186C>G	ENSP00000514856.2:n.-186C>G
ENST00000380152.8:c.-186C>G MANE Select	ENSP00000369497.3:n.-186C>G
ENST00000544455.6:c.-40+376C>G	ENSP00000439902.1:n.-40+376C>G
ENST00000380152.7:c.-186C>G	ENSP00000369497.3:n.-186C>G
ENST00000530893.6:n.17C>G
ENST00000544455.5:c.-186C>G	ENSP00000439902.1:n.-186C>G
NM_000059.3:c.-186C>G , LRG_293t1:c.-186C>G	NP_000050.2:n.-186C>G
XM_011535203.1:c.-40+376C>G	XP_011533505.1:n.-40+376C>G
XM_011535204.1:c.-186C>G	XP_011533506.1:n.-186C>G
XM_011535205.1:c.-186C>G	XP_011533507.1:n.-186C>G
NM_000059.4:c.-186C>G MANE Select	NP_000050.3:n.-186C>G