Canonical Allele Identifier: CA387767977

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137666515
• MyVariant Identifiers: chr13:g.32972744T>A (hg19) ; chr13:g.32398607T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398607T>A , CM000675.2:g.32398607T>A	GRCh38
NC_000013.10:g.32972744T>A , CM000675.1:g.32972744T>A	GRCh37
NC_000013.9:g.31870744T>A	NCBI36
NG_012772.3:g.88128T>A , LRG_293:g.88128T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*617T>A	ENSP00000434898.2:n.*617T>A
ENST00000528762.2:c.*1461T>A	ENSP00000433168.2:n.*1461T>A
ENST00000530893.7:c.9725T>A	ENSP00000499438.2:p.Val3242Asp
ENST00000665585.2:c.*1656T>A	ENSP00000499570.2:n.*1656T>A
ENST00000700202.2:c.10043T>A	ENSP00000514856.2:p.Val3348Asp
ENST00000700202.1:c.2510T>A	ENSP00000514856.1:p.Val837Asp
ENST00000700203.1:n.2221T>A
ENST00000380152.8:c.10094T>A MANE Select	ENSP00000369497.3:p.Val3365Asp
ENST00000544455.6:c.10094T>A	ENSP00000439902.1:p.Val3365Asp
ENST00000614259.2:c.10102T>A	ENSP00000506251.1:n.10102T>A
ENST00000680887.1:c.10094T>A	ENSP00000505508.1:p.Val3365Asp
ENST00000380152.7:c.10094T>A	ENSP00000369497.3:p.Val3365Asp
ENST00000544455.5:c.10094T>A	ENSP00000439902.1:p.Val3365Asp
NM_000059.3:c.10094T>A , LRG_293t1:c.10094T>A	NP_000050.2:p.Val3365Asp
XM_011535203.1:c.10094T>A	XP_011533505.1:p.Val3365Asp
XM_011535204.1:c.9998T>A	XP_011533506.1:p.Val3333Asp
NM_000059.4:c.10094T>A MANE Select	NP_000050.3:p.Val3365Asp