Canonical Allele Identifier: CA387747221

Gene: BRCA2

Linked Data

• dbSNP Id: rs778391123
• MyVariant Identifiers: chr13:g.32936793C>A (hg19) ; chr13:g.32362656C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362656C>A , CM000675.2:g.32362656C>A	GRCh38
NC_000013.10:g.32936793C>A , CM000675.1:g.32936793C>A	GRCh37
NC_000013.9:g.31834793C>A	NCBI36
NG_012772.3:g.52177C>A , LRG_293:g.52177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7939C>A	ENSP00000434898.2:p.Leu2647Ile
ENST00000528762.2:c.7939C>A	ENSP00000433168.2:p.Leu2647Ile
ENST00000530893.7:c.7570C>A	ENSP00000499438.2:p.Leu2524Ile
ENST00000665585.2:c.7939C>A	ENSP00000499570.2:p.Leu2647Ile
ENST00000666593.2:c.7939C>A	ENSP00000499256.2:p.Leu2647Ile
ENST00000700202.2:c.7939C>A	ENSP00000514856.2:p.Leu2647Ile
ENST00000700202.1:c.406C>A	ENSP00000514856.1:p.Leu136Ile
ENST00000380152.8:c.7939C>A MANE Select	ENSP00000369497.3:p.Leu2647Ile
ENST00000544455.6:c.7939C>A	ENSP00000439902.1:p.Leu2647Ile
ENST00000614259.2:c.7947C>A	ENSP00000506251.1:p.Ala2649=
ENST00000665585.1:c.504C>A
ENST00000680887.1:c.7939C>A	ENSP00000505508.1:p.Leu2647Ile
ENST00000380152.7:c.7939C>A	ENSP00000369497.3:p.Leu2647Ile
ENST00000544455.5:c.7939C>A	ENSP00000439902.1:p.Leu2647Ile
ENST00000614259.1:n.7947C>A
NM_000059.3:c.7939C>A , LRG_293t1:c.7939C>A	NP_000050.2:p.Leu2647Ile
XM_011535203.1:c.7939C>A	XP_011533505.1:p.Leu2647Ile
XM_011535204.1:c.7843C>A	XP_011533506.1:p.Leu2615Ile
XM_011535205.1:c.7939C>A	XP_011533507.1:p.Leu2647Ile
NM_000059.4:c.7939C>A MANE Select	NP_000050.3:p.Leu2647Ile