Canonical Allele Identifier: CA10589498

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267088
• ClinVar RCV Id: RCV000257482
• dbSNP Id: rs886040777
• MyVariant Identifiers: chr13:g.32944673dupT (hg19) ; chr13:g.32370536dupT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370536dup , CM000675.2:g.32370536dup	GRCh38
NC_000013.10:g.32944673dup , CM000675.1:g.32944673dup	GRCh37
NC_000013.9:g.31842673dup	NCBI36
NG_012772.3:g.60057dup , LRG_293:g.60057dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8466dup	ENSP00000434898.2:p.Gln2823SerfsTer22
ENST00000528762.2:c.8466dup	ENSP00000433168.2:p.Gln2823SerfsTer22
ENST00000530893.7:c.8097dup	ENSP00000499438.2:p.Gln2700SerfsTer22
ENST00000665585.2:c.8466dup	ENSP00000499570.2:p.Gln2823SerfsTer22
ENST00000666593.2:c.8466dup	ENSP00000499256.2:p.Gln2823SerfsTer22
ENST00000700202.2:c.8466dup	ENSP00000514856.2:p.Gln2823SerfsTer22
ENST00000700202.1:c.933dup	ENSP00000514856.1:p.Gln312SerfsTer22
ENST00000380152.8:c.8466dup MANE Select	ENSP00000369497.3:p.Gln2823SerfsTer22
ENST00000544455.6:c.8466dup	ENSP00000439902.1:p.Gln2823SerfsTer22
ENST00000614259.2:c.8474dup	ENSP00000506251.1:n.8474dup
ENST00000665585.1:c.1031dup
ENST00000680887.1:c.8466dup	ENSP00000505508.1:p.Gln2823SerfsTer22
ENST00000380152.7:c.8466dup	ENSP00000369497.3:p.Gln2823SerfsTer22
ENST00000544455.5:c.8466dup	ENSP00000439902.1:p.Gln2823SerfsTer22
NM_000059.3:c.8466dup , LRG_293t1:c.8466dup	NP_000050.2:p.Gln2823SerfsTer22
XM_011535203.1:c.8466dup	XP_011533505.1:p.Gln2823SerfsTer22
XM_011535204.1:c.8370dup	XP_011533506.1:p.Gln2791SerfsTer22
XM_011535205.1:c.8466dup	XP_011533507.1:p.Gln2823SerfsTer22
NM_000059.4:c.8466dup MANE Select	NP_000050.3:p.Gln2823SerfsTer22