Canonical Allele Identifier: CA6941225

Gene: BRCA2

Linked Data

• dbSNP Id: rs761952204
• ExAC: 13:32944590 T / A
• gnomAD v2: 13-32944590-T-A
• gnomAD v4: 13-32370453-T-A
• MyVariant Identifiers: chr13:g.32944590T>A (hg19) ; chr13:g.32370453T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370453T>A , CM000675.2:g.32370453T>A	GRCh38
NC_000013.10:g.32944590T>A , CM000675.1:g.32944590T>A	GRCh37
NC_000013.9:g.31842590T>A	NCBI36
NG_012772.3:g.59974T>A , LRG_293:g.59974T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8383T>A	ENSP00000434898.2:p.Phe2795Ile
ENST00000528762.2:c.8383T>A	ENSP00000433168.2:p.Phe2795Ile
ENST00000530893.7:c.8014T>A	ENSP00000499438.2:p.Phe2672Ile
ENST00000665585.2:c.8383T>A	ENSP00000499570.2:p.Phe2795Ile
ENST00000666593.2:c.8383T>A	ENSP00000499256.2:p.Phe2795Ile
ENST00000700202.2:c.8383T>A	ENSP00000514856.2:p.Phe2795Ile
ENST00000700202.1:c.850T>A	ENSP00000514856.1:p.Phe284Ile
ENST00000380152.8:c.8383T>A MANE Select	ENSP00000369497.3:p.Phe2795Ile
ENST00000544455.6:c.8383T>A	ENSP00000439902.1:p.Phe2795Ile
ENST00000614259.2:c.8391T>A	ENSP00000506251.1:n.8391T>A
ENST00000665585.1:c.948T>A
ENST00000680887.1:c.8383T>A	ENSP00000505508.1:p.Phe2795Ile
ENST00000380152.7:c.8383T>A	ENSP00000369497.3:p.Phe2795Ile
ENST00000544455.5:c.8383T>A	ENSP00000439902.1:p.Phe2795Ile
NM_000059.3:c.8383T>A , LRG_293t1:c.8383T>A	NP_000050.2:p.Phe2795Ile
XM_011535203.1:c.8383T>A	XP_011533505.1:p.Phe2795Ile
XM_011535204.1:c.8287T>A	XP_011533506.1:p.Phe2763Ile
XM_011535205.1:c.8383T>A	XP_011533507.1:p.Phe2795Ile
NM_000059.4:c.8383T>A MANE Select	NP_000050.3:p.Phe2795Ile