Canonical Allele Identifier: CA483261526

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1153303
• ClinVar RCV Id: RCV001494946
• dbSNP Id: rs2137600557
• gnomAD v4: 13-32371039-C-T
• MyVariant Identifiers: chr13:g.32945176C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371039C>T , CM000675.2:g.32371039C>T	GRCh38
NC_000013.10:g.32945176C>T , CM000675.1:g.32945176C>T	GRCh37
NC_000013.9:g.31843176C>T	NCBI36
NG_012772.3:g.60560C>T , LRG_293:g.60560C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8571C>T	ENSP00000434898.2:p.Ala2857=
ENST00000528762.2:c.8571C>T	ENSP00000433168.2:p.Ala2857=
ENST00000530893.7:c.8202C>T	ENSP00000499438.2:p.Ala2734=
ENST00000665585.2:c.8571C>T	ENSP00000499570.2:p.Ala2857=
ENST00000666593.2:c.8571C>T	ENSP00000499256.2:p.Ala2857=
ENST00000700202.2:c.8571C>T	ENSP00000514856.2:p.Ala2857=
ENST00000700202.1:c.1038C>T	ENSP00000514856.1:p.Ala346=
ENST00000380152.8:c.8571C>T MANE Select	ENSP00000369497.3:p.Ala2857=
ENST00000544455.6:c.8571C>T	ENSP00000439902.1:p.Ala2857=
ENST00000614259.2:c.8579C>T	ENSP00000506251.1:n.8579C>T
ENST00000665585.1:c.1136C>T
ENST00000680887.1:c.8571C>T	ENSP00000505508.1:p.Ala2857=
ENST00000380152.7:c.8571C>T	ENSP00000369497.3:p.Ala2857=
ENST00000528762.1:c.69C>T	ENSP00000433168.1:p.Ala23=
ENST00000544455.5:c.8571C>T	ENSP00000439902.1:p.Ala2857=
NM_000059.3:c.8571C>T , LRG_293t1:c.8571C>T	NP_000050.2:p.Ala2857=
XM_011535203.1:c.8571C>T	XP_011533505.1:p.Ala2857=
XM_011535204.1:c.8475C>T	XP_011533506.1:p.Ala2825=
XM_011535205.1:c.8571C>T	XP_011533507.1:p.Ala2857=
NM_000059.4:c.8571C>T MANE Select	NP_000050.3:p.Ala2857=