Canonical Allele Identifier: CA387766733

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137664657
• MyVariant Identifiers: chr13:g.32972531C>T (hg19) ; chr13:g.32398394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398394C>T , CM000675.2:g.32398394C>T	GRCh38
NC_000013.10:g.32972531C>T , CM000675.1:g.32972531C>T	GRCh37
NC_000013.9:g.31870531C>T	NCBI36
NG_012772.3:g.87915C>T , LRG_293:g.87915C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*404C>T	ENSP00000434898.2:n.*404C>T
ENST00000528762.2:c.*1248C>T	ENSP00000433168.2:n.*1248C>T
ENST00000530893.7:c.9512C>T	ENSP00000499438.2:p.Ala3171Val
ENST00000665585.2:c.*1443C>T	ENSP00000499570.2:n.*1443C>T
ENST00000700202.2:c.9830C>T	ENSP00000514856.2:p.Ala3277Val
ENST00000700202.1:c.2297C>T	ENSP00000514856.1:p.Ala766Val
ENST00000700203.1:n.2008C>T
ENST00000380152.8:c.9881C>T MANE Select	ENSP00000369497.3:p.Ala3294Val
ENST00000544455.6:c.9881C>T	ENSP00000439902.1:p.Ala3294Val
ENST00000614259.2:c.9889C>T	ENSP00000506251.1:n.9889C>T
ENST00000680887.1:c.9881C>T	ENSP00000505508.1:p.Ala3294Val
ENST00000380152.7:c.9881C>T	ENSP00000369497.3:p.Ala3294Val
ENST00000533776.1:n.469C>T
ENST00000544455.5:c.9881C>T	ENSP00000439902.1:p.Ala3294Val
NM_000059.3:c.9881C>T , LRG_293t1:c.9881C>T	NP_000050.2:p.Ala3294Val
XM_011535203.1:c.9881C>T	XP_011533505.1:p.Ala3294Val
XM_011535204.1:c.9785C>T	XP_011533506.1:p.Ala3262Val
NM_000059.4:c.9881C>T MANE Select	NP_000050.3:p.Ala3294Val