Canonical Allele Identifier: CA1139663189

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 933152
• ClinVar RCV Id: RCV001201180 ; RCV003158448
• dbSNP Id: rs2072497730

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338511_32338512delinsTG , CM000675.2:g.32338511_32338512delinsTG	GRCh38
NC_000013.10:g.32912648_32912649delinsTG , CM000675.1:g.32912648_32912649delinsTG	GRCh37
NC_000013.9:g.31810648_31810649delinsTG	NCBI36
NG_012772.3:g.28032_28033delinsTG , LRG_293:g.28032_28033delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4156_4157delinsTG	ENSP00000434898.2:p.Asp1386Cys
ENST00000528762.2:c.4156_4157delinsTG	ENSP00000433168.2:p.Asp1386Cys
ENST00000530893.7:c.3787_3788delinsTG	ENSP00000499438.2:p.Asp1263Cys
ENST00000665585.2:c.4156_4157delinsTG	ENSP00000499570.2:p.Asp1386Cys
ENST00000666593.2:c.4156_4157delinsTG	ENSP00000499256.2:p.Asp1386Cys
ENST00000700202.2:c.4156_4157delinsTG	ENSP00000514856.2:p.Asp1386Cys
ENST00000380152.8:c.4156_4157delinsTG MANE Select	ENSP00000369497.3:p.Asp1386Cys
ENST00000544455.6:c.4156_4157delinsTG	ENSP00000439902.1:p.Asp1386Cys
ENST00000614259.2:c.4156_4157delinsTG	ENSP00000506251.1:p.Asp1386Cys
ENST00000680887.1:c.4156_4157delinsTG	ENSP00000505508.1:p.Asp1386Cys
ENST00000380152.7:c.4156_4157delinsTG	ENSP00000369497.3:p.Asp1386Cys
ENST00000544455.5:c.4156_4157delinsTG	ENSP00000439902.1:p.Asp1386Cys
ENST00000614259.1:n.4156_4157delinsTG
NM_000059.3:c.4156_4157delinsTG , LRG_293t1:c.4156_4157delinsTG	NP_000050.2:p.Asp1386Cys
XM_011535203.1:c.4156_4157delinsTG	XP_011533505.1:p.Asp1386Cys
XM_011535204.1:c.4156_4157delinsTG	XP_011533506.1:p.Asp1386Cys
XM_011535205.1:c.4156_4157delinsTG	XP_011533507.1:p.Asp1386Cys
NM_000059.4:c.4156_4157delinsTG MANE Select	NP_000050.3:p.Asp1386Cys