Canonical Allele Identifier: CA10589443

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267027
• ClinVar RCV Id: RCV000257593
• dbSNP Id: rs886040723
• MyVariant Identifiers: chr13:g.32931899_32931908del (hg19) ; chr13:g.32357762_32357771del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32357762_32357771del , CM000675.2:g.32357762_32357771del	GRCh38
NC_000013.10:g.32931899_32931908del , CM000675.1:g.32931899_32931908del	GRCh37
NC_000013.9:g.31829899_31829908del	NCBI36
NG_012772.3:g.47283_47292del , LRG_293:g.47283_47292del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7638_7647del	ENSP00000434898.2:p.Lys2547Ter
ENST00000528762.2:c.7638_7647del	ENSP00000433168.2:p.Lys2547Ter
ENST00000530893.7:c.7269_7278del	ENSP00000499438.2:p.Lys2424Ter
ENST00000665585.2:c.7638_7647del	ENSP00000499570.2:p.Lys2547Ter
ENST00000666593.2:c.7638_7647del	ENSP00000499256.2:p.Lys2547Ter
ENST00000700202.2:c.7638_7647del	ENSP00000514856.2:p.Lys2547Ter
ENST00000700202.1:c.105_114del	ENSP00000514856.1:p.Lys36Ter
ENST00000380152.8:c.7638_7647del MANE Select	ENSP00000369497.3:p.Lys2547Ter
ENST00000544455.6:c.7638_7647del	ENSP00000439902.1:p.Lys2547Ter
ENST00000614259.2:c.7638_7647del	ENSP00000506251.1:p.Lys2547Ter
ENST00000665585.1:c.203_212del
ENST00000680887.1:c.7638_7647del	ENSP00000505508.1:p.Lys2547Ter
ENST00000380152.7:c.7638_7647del	ENSP00000369497.3:p.Lys2547Ter
ENST00000544455.5:c.7638_7647del	ENSP00000439902.1:p.Lys2547Ter
ENST00000614259.1:n.7638_7647del
NM_000059.3:c.7638_7647del , LRG_293t1:c.7638_7647del	NP_000050.2:p.Lys2547Ter
XM_011535203.1:c.7638_7647del	XP_011533505.1:p.Lys2547Ter
XM_011535204.1:c.7542_7551del	XP_011533506.1:p.Lys2515Ter
XM_011535205.1:c.7638_7647del	XP_011533507.1:p.Lys2547Ter
NM_000059.4:c.7638_7647del MANE Select	NP_000050.3:p.Lys2547Ter