Canonical Allele Identifier: CA387767979

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1793476
• ClinVar RCV Id: RCV002437085
• dbSNP Id: rs2137666515
• MyVariant Identifiers: chr13:g.32972744T>C (hg19) ; chr13:g.32398607T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*617T>C	ENSP00000434898.2:n.*617T>C
ENST00000528762.2:c.*1461T>C	ENSP00000433168.2:n.*1461T>C
ENST00000530893.7:c.9725T>C	ENSP00000499438.2:p.Val3242Ala
ENST00000665585.2:c.*1656T>C	ENSP00000499570.2:n.*1656T>C
ENST00000700202.2:c.10043T>C	ENSP00000514856.2:p.Val3348Ala
ENST00000700202.1:c.2510T>C	ENSP00000514856.1:p.Val837Ala
ENST00000700203.1:n.2221T>C
ENST00000380152.8:c.10094T>C MANE Select	ENSP00000369497.3:p.Val3365Ala
ENST00000544455.6:c.10094T>C	ENSP00000439902.1:p.Val3365Ala
ENST00000614259.2:c.10102T>C	ENSP00000506251.1:n.10102T>C
ENST00000680887.1:c.10094T>C	ENSP00000505508.1:p.Val3365Ala
ENST00000380152.7:c.10094T>C	ENSP00000369497.3:p.Val3365Ala
ENST00000544455.5:c.10094T>C	ENSP00000439902.1:p.Val3365Ala
NM_000059.3:c.10094T>C , LRG_293t1:c.10094T>C	NP_000050.2:p.Val3365Ala
XM_011535203.1:c.10094T>C	XP_011533505.1:p.Val3365Ala
XM_011535204.1:c.9998T>C	XP_011533506.1:p.Val3333Ala
NM_000059.4:c.10094T>C MANE Select	NP_000050.3:p.Val3365Ala