Canonical Allele Identifier: CA483439648

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566252734
• gnomAD v3: 13-32379460-C-G
• gnomAD v4: 13-32379460-C-G
• MyVariant Identifiers: chr13:g.32953597C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379460C>G , CM000675.2:g.32379460C>G	GRCh38
NC_000013.10:g.32953597C>G , CM000675.1:g.32953597C>G	GRCh37
NC_000013.9:g.31851597C>G	NCBI36
NG_012772.3:g.68981C>G , LRG_293:g.68981C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8898C>G	ENSP00000434898.2:p.Val2966=
ENST00000528762.2:c.*265C>G	ENSP00000433168.2:n.*265C>G
ENST00000530893.7:c.8529C>G	ENSP00000499438.2:p.Val2843=
ENST00000665585.2:c.*460C>G	ENSP00000499570.2:n.*460C>G
ENST00000666593.2:c.8898C>G	ENSP00000499256.2:p.Val2966=
ENST00000700202.2:c.8898C>G	ENSP00000514856.2:p.Val2966=
ENST00000700202.1:c.1365C>G	ENSP00000514856.1:p.Val455=
ENST00000700203.1:n.1025C>G
ENST00000380152.8:c.8898C>G MANE Select	ENSP00000369497.3:p.Val2966=
ENST00000544455.6:c.8898C>G	ENSP00000439902.1:p.Val2966=
ENST00000614259.2:c.8906C>G	ENSP00000506251.1:n.8906C>G
ENST00000665585.1:c.1776C>G
ENST00000680887.1:c.8898C>G	ENSP00000505508.1:p.Val2966=
ENST00000380152.7:c.8898C>G	ENSP00000369497.3:p.Val2966=
ENST00000528762.1:c.460C>G	ENSP00000433168.1:n.460C>G
ENST00000544455.5:c.8898C>G	ENSP00000439902.1:p.Val2966=
NM_000059.3:c.8898C>G , LRG_293t1:c.8898C>G	NP_000050.2:p.Val2966=
XM_011535203.1:c.8898C>G	XP_011533505.1:p.Val2966=
XM_011535204.1:c.8802C>G	XP_011533506.1:p.Val2934=
XM_011535205.1:c.8755-290C>G	XP_011533507.1:n.8755-290C>G
NM_000059.4:c.8898C>G MANE Select	NP_000050.3:p.Val2966=