Canonical Allele Identifier: CA483439959

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972796G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398659G>A , CM000675.2:g.32398659G>A	GRCh38
NC_000013.10:g.32972796G>A , CM000675.1:g.32972796G>A	GRCh37
NC_000013.9:g.31870796G>A	NCBI36
NG_012772.3:g.88180G>A , LRG_293:g.88180G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*669G>A	ENSP00000434898.2:n.*669G>A
ENST00000528762.2:c.*1513G>A	ENSP00000433168.2:n.*1513G>A
ENST00000530893.7:c.9777G>A	ENSP00000499438.2:p.Leu3259=
ENST00000665585.2:c.*1708G>A	ENSP00000499570.2:n.*1708G>A
ENST00000700202.2:c.10095G>A	ENSP00000514856.2:p.Leu3365=
ENST00000700202.1:c.2562G>A	ENSP00000514856.1:p.Leu854=
ENST00000700203.1:n.2273G>A
ENST00000380152.8:c.10146G>A MANE Select	ENSP00000369497.3:p.Leu3382=
ENST00000544455.6:c.10146G>A	ENSP00000439902.1:p.Leu3382=
ENST00000614259.2:c.10154G>A	ENSP00000506251.1:n.10154G>A
ENST00000680887.1:c.10146G>A	ENSP00000505508.1:p.Leu3382=
ENST00000380152.7:c.10146G>A	ENSP00000369497.3:p.Leu3382=
ENST00000544455.5:c.10146G>A	ENSP00000439902.1:p.Leu3382=
NM_000059.3:c.10146G>A , LRG_293t1:c.10146G>A	NP_000050.2:p.Leu3382=
XM_011535203.1:c.10146G>A	XP_011533505.1:p.Leu3382=
XM_011535204.1:c.10050G>A	XP_011533506.1:p.Leu3350=
NM_000059.4:c.10146G>A MANE Select	NP_000050.3:p.Leu3382=