Canonical Allele Identifier: CA483439884

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 506552
• ClinVar RCV Id: RCV000604018 ; RCV003767465 ; RCV002448851 ; RCV004002492
• dbSNP Id: rs368576266
• gnomAD v4: 13-32379883-G-T
• MyVariant Identifiers: chr13:g.32954020G>T (hg19) ; chr13:g.32379883G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379883G>T , CM000675.2:g.32379883G>T	GRCh38
NC_000013.10:g.32954020G>T , CM000675.1:g.32954020G>T	GRCh37
NC_000013.9:g.31852020G>T	NCBI36
NG_012772.3:g.69404G>T , LRG_293:g.69404G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9087G>T	ENSP00000434898.2:p.Ala3029=
ENST00000528762.2:c.*454G>T	ENSP00000433168.2:n.*454G>T
ENST00000530893.7:c.8718G>T	ENSP00000499438.2:p.Ala2906=
ENST00000665585.2:c.*649G>T	ENSP00000499570.2:n.*649G>T
ENST00000666593.2:c.9087G>T	ENSP00000499256.2:p.Ala3029=
ENST00000700202.2:c.9036G>T	ENSP00000514856.2:p.Ala3012=
ENST00000700202.1:c.1503G>T	ENSP00000514856.1:p.Ala501=
ENST00000700203.1:n.1214G>T
ENST00000380152.8:c.9087G>T MANE Select	ENSP00000369497.3:p.Ala3029=
ENST00000544455.6:c.9087G>T	ENSP00000439902.1:p.Ala3029=
ENST00000614259.2:c.9095G>T	ENSP00000506251.1:n.9095G>T
ENST00000665585.1:c.1965G>T
ENST00000680887.1:c.9087G>T	ENSP00000505508.1:p.Ala3029=
ENST00000380152.7:c.9087G>T	ENSP00000369497.3:p.Ala3029=
ENST00000470094.1:c.44G>T
ENST00000544455.5:c.9087G>T	ENSP00000439902.1:p.Ala3029=
NM_000059.3:c.9087G>T , LRG_293t1:c.9087G>T	NP_000050.2:p.Ala3029=
XM_011535203.1:c.9087G>T	XP_011533505.1:p.Ala3029=
XM_011535204.1:c.8991G>T	XP_011533506.1:p.Ala2997=
NM_000059.4:c.9087G>T MANE Select	NP_000050.3:p.Ala3029=