Canonical Allele Identifier: CA387760723

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137651805
• MyVariant Identifiers: chr13:g.32968829T>A (hg19) ; chr13:g.32394692T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394692T>A , CM000675.2:g.32394692T>A	GRCh38
NC_000013.10:g.32968829T>A , CM000675.1:g.32968829T>A	GRCh37
NC_000013.9:g.31866829T>A	NCBI36
NG_012772.3:g.84213T>A , LRG_293:g.84213T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9260T>A	ENSP00000434898.2:p.Leu3087His
ENST00000528762.2:c.*627T>A	ENSP00000433168.2:n.*627T>A
ENST00000530893.7:c.8891T>A	ENSP00000499438.2:p.Leu2964His
ENST00000665585.2:c.*822T>A	ENSP00000499570.2:n.*822T>A
ENST00000666593.2:c.*105T>A	ENSP00000499256.2:n.*105T>A
ENST00000700202.2:c.9209T>A	ENSP00000514856.2:p.Leu3070His
ENST00000700202.1:c.1676T>A	ENSP00000514856.1:p.Leu559His
ENST00000700203.1:n.1387T>A
ENST00000380152.8:c.9260T>A MANE Select	ENSP00000369497.3:p.Leu3087His
ENST00000544455.6:c.9260T>A	ENSP00000439902.1:p.Leu3087His
ENST00000614259.2:c.9268T>A	ENSP00000506251.1:n.9268T>A
ENST00000665585.1:c.2138T>A
ENST00000666593.1:c.282T>A	ENSP00000499256.1:n.282T>A
ENST00000680887.1:c.9260T>A	ENSP00000505508.1:p.Leu3087His
ENST00000380152.7:c.9260T>A	ENSP00000369497.3:p.Leu3087His
ENST00000470094.1:c.217T>A
ENST00000544455.5:c.9260T>A	ENSP00000439902.1:p.Leu3087His
NM_000059.3:c.9260T>A , LRG_293t1:c.9260T>A	NP_000050.2:p.Leu3087His
XM_011535203.1:c.9260T>A	XP_011533505.1:p.Leu3087His
XM_011535204.1:c.9164T>A	XP_011533506.1:p.Leu3055His
NM_000059.4:c.9260T>A MANE Select	NP_000050.3:p.Leu3087His