Canonical Allele Identifier: CA919242708

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2736005
• ClinVar RCV Id: RCV003530947
• dbSNP Id: rs1566234607

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340795_32340798del , CM000675.2:g.32340795_32340798del	GRCh38
NC_000013.10:g.32914932_32914935del , CM000675.1:g.32914932_32914935del	GRCh37
NC_000013.9:g.31812932_31812935del	NCBI36
NG_012772.3:g.30316_30319del , LRG_293:g.30316_30319del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.6440_6443del	ENSP00000434898.2:p.His2147LeufsTer20
ENST00000528762.2:c.6440_6443del	ENSP00000433168.2:p.His2147LeufsTer20
ENST00000530893.7:c.6071_6074del	ENSP00000499438.2:p.His2024LeufsTer20
ENST00000665585.2:c.6440_6443del	ENSP00000499570.2:p.His2147LeufsTer20
ENST00000666593.2:c.6440_6443del	ENSP00000499256.2:p.His2147LeufsTer20
ENST00000700202.2:c.6440_6443del	ENSP00000514856.2:p.His2147LeufsTer20
ENST00000380152.8:c.6440_6443del MANE Select	ENSP00000369497.3:p.His2147LeufsTer20
ENST00000544455.6:c.6440_6443del	ENSP00000439902.1:p.His2147LeufsTer20
ENST00000614259.2:c.6440_6443del	ENSP00000506251.1:p.His2147LeufsTer20
ENST00000680887.1:c.6440_6443del	ENSP00000505508.1:p.His2147LeufsTer20
ENST00000380152.7:c.6440_6443del	ENSP00000369497.3:p.His2147LeufsTer20
ENST00000544455.5:c.6440_6443del	ENSP00000439902.1:p.His2147LeufsTer20
ENST00000614259.1:n.6440_6443del
NM_000059.3:c.6440_6443del , LRG_293t1:c.6440_6443del	NP_000050.2:p.His2147LeufsTer20
XM_011535203.1:c.6440_6443del	XP_011533505.1:p.His2147LeufsTer20
XM_011535204.1:c.6440_6443del	XP_011533506.1:p.His2147LeufsTer20
XM_011535205.1:c.6440_6443del	XP_011533507.1:p.His2147LeufsTer20
NM_000059.4:c.6440_6443del MANE Select	NP_000050.3:p.His2147LeufsTer20