Canonical Allele Identifier: CA387738847

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137556176
• MyVariant Identifiers: chr13:g.32929120T>A (hg19) ; chr13:g.32354983T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32354983T>A , CM000675.2:g.32354983T>A	GRCh38
NC_000013.10:g.32929120T>A , CM000675.1:g.32929120T>A	GRCh37
NC_000013.9:g.31827120T>A	NCBI36
NG_012772.3:g.44504T>A , LRG_293:g.44504T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7130T>A	ENSP00000434898.2:p.Val2377Asp
ENST00000528762.2:c.7130T>A	ENSP00000433168.2:p.Val2377Asp
ENST00000530893.7:c.6761T>A	ENSP00000499438.2:p.Val2254Asp
ENST00000665585.2:c.7130T>A	ENSP00000499570.2:p.Val2377Asp
ENST00000666593.2:c.7130T>A	ENSP00000499256.2:p.Val2377Asp
ENST00000700202.2:c.7130T>A	ENSP00000514856.2:p.Val2377Asp
ENST00000380152.8:c.7130T>A MANE Select	ENSP00000369497.3:p.Val2377Asp
ENST00000544455.6:c.7130T>A	ENSP00000439902.1:p.Val2377Asp
ENST00000614259.2:c.7130T>A	ENSP00000506251.1:p.Val2377Asp
ENST00000680887.1:c.7130T>A	ENSP00000505508.1:p.Val2377Asp
ENST00000380152.7:c.7130T>A	ENSP00000369497.3:p.Val2377Asp
ENST00000544455.5:c.7130T>A	ENSP00000439902.1:p.Val2377Asp
ENST00000614259.1:n.7130T>A
NM_000059.3:c.7130T>A , LRG_293t1:c.7130T>A	NP_000050.2:p.Val2377Asp
XM_011535203.1:c.7130T>A	XP_011533505.1:p.Val2377Asp
XM_011535204.1:c.7034T>A	XP_011533506.1:p.Val2345Asp
XM_011535205.1:c.7130T>A	XP_011533507.1:p.Val2377Asp
NM_000059.4:c.7130T>A MANE Select	NP_000050.3:p.Val2377Asp