Canonical Allele Identifier: CA658798063

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 531255
• ClinVar RCV Id: RCV000637431
• dbSNP Id: rs1555288145
• MyVariant Identifiers: chr13:g.32950837del (hg19) ; chr13:g.32376700del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376700del , CM000675.2:g.32376700del	GRCh38
NC_000013.10:g.32950837del , CM000675.1:g.32950837del	GRCh37
NC_000013.9:g.31848837del	NCBI36
NG_012772.3:g.66221del , LRG_293:g.66221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8663del	ENSP00000434898.2:p.Arg2888LeufsTer3
ENST00000528762.2:c.*30del	ENSP00000433168.2:n.*30del
ENST00000530893.7:c.8294del	ENSP00000499438.2:p.Arg2765LeufsTer3
ENST00000665585.2:c.*225del	ENSP00000499570.2:n.*225del
ENST00000666593.2:c.8663del	ENSP00000499256.2:p.Arg2888LeufsTer3
ENST00000700202.2:c.8663del	ENSP00000514856.2:p.Arg2888LeufsTer3
ENST00000700202.1:c.1130del	ENSP00000514856.1:p.Arg377LeufsTer3
ENST00000700203.1:n.790del
ENST00000380152.8:c.8663del MANE Select	ENSP00000369497.3:p.Arg2888LeufsTer3
ENST00000544455.6:c.8663del	ENSP00000439902.1:p.Arg2888LeufsTer3
ENST00000614259.2:c.8671del	ENSP00000506251.1:n.8671del
ENST00000665585.1:c.1541del
ENST00000680887.1:c.8663del	ENSP00000505508.1:p.Arg2888LeufsTer3
ENST00000380152.7:c.8663del	ENSP00000369497.3:p.Arg2888LeufsTer3
ENST00000528762.1:c.225del	ENSP00000433168.1:n.225del
ENST00000544455.5:c.8663del	ENSP00000439902.1:p.Arg2888LeufsTer3
NM_000059.3:c.8663del , LRG_293t1:c.8663del	NP_000050.2:p.Arg2888LeufsTer3
XM_011535203.1:c.8663del	XP_011533505.1:p.Arg2888LeufsTer3
XM_011535204.1:c.8567del	XP_011533506.1:p.Arg2856LeufsTer3
XM_011535205.1:c.8663del	XP_011533507.1:p.Arg2888LeufsTer3
NM_000059.4:c.8663del MANE Select	NP_000050.3:p.Arg2888LeufsTer3