Canonical Allele Identifier: CA387760730

Gene: BRCA2

Linked Data

• dbSNP Id: rs80359193
• MyVariant Identifiers: chr13:g.32968832C>A (hg19) ; chr13:g.32394695C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394695C>A , CM000675.2:g.32394695C>A	GRCh38
NC_000013.10:g.32968832C>A , CM000675.1:g.32968832C>A	GRCh37
NC_000013.9:g.31866832C>A	NCBI36
NG_012772.3:g.84216C>A , LRG_293:g.84216C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9263C>A	ENSP00000434898.2:p.Ala3088Asp
ENST00000528762.2:c.*630C>A	ENSP00000433168.2:n.*630C>A
ENST00000530893.7:c.8894C>A	ENSP00000499438.2:p.Ala2965Asp
ENST00000665585.2:c.*825C>A	ENSP00000499570.2:n.*825C>A
ENST00000666593.2:c.*108C>A	ENSP00000499256.2:n.*108C>A
ENST00000700202.2:c.9212C>A	ENSP00000514856.2:p.Ala3071Asp
ENST00000700202.1:c.1679C>A	ENSP00000514856.1:p.Ala560Asp
ENST00000700203.1:n.1390C>A
ENST00000380152.8:c.9263C>A MANE Select	ENSP00000369497.3:p.Ala3088Asp
ENST00000544455.6:c.9263C>A	ENSP00000439902.1:p.Ala3088Asp
ENST00000614259.2:c.9271C>A	ENSP00000506251.1:n.9271C>A
ENST00000665585.1:c.2141C>A
ENST00000666593.1:c.285C>A	ENSP00000499256.1:n.285C>A
ENST00000680887.1:c.9263C>A	ENSP00000505508.1:p.Ala3088Asp
ENST00000380152.7:c.9263C>A	ENSP00000369497.3:p.Ala3088Asp
ENST00000470094.1:c.220C>A
ENST00000544455.5:c.9263C>A	ENSP00000439902.1:p.Ala3088Asp
NM_000059.3:c.9263C>A , LRG_293t1:c.9263C>A	NP_000050.2:p.Ala3088Asp
XM_011535203.1:c.9263C>A	XP_011533505.1:p.Ala3088Asp
XM_011535204.1:c.9167C>A	XP_011533506.1:p.Ala3056Asp
NM_000059.4:c.9263C>A MANE Select	NP_000050.3:p.Ala3088Asp