Canonical Allele Identifier: CA090898

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 233493
• ClinVar RCV Id: RCV001354519 ; RCV003475032
• dbSNP Id: rs483353072
• MyVariant Identifiers: chr13:g.32932023_32932025delinsTT (hg19) ; chr13:g.32357886_32357888delinsTT (hg38)
• PubMed: PMID:12960223 ; PMID:18703817 ; PMID:18824701 ; PMID:20104584 ; PMID:22706548 ; PMID:24307375 ; PMID:25685387 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32357886_32357888delinsTT , CM000675.2:g.32357886_32357888delinsTT	GRCh38
NC_000013.10:g.32932023_32932025delinsTT , CM000675.1:g.32932023_32932025delinsTT	GRCh37
NC_000013.9:g.31830023_31830025delinsTT	NCBI36
NG_012772.3:g.47407_47409delinsTT , LRG_293:g.47407_47409delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7762_7764delinsTT	ENSP00000434898.2:p.Ile2588PhefsTer?
ENST00000528762.2:c.7762_7764delinsTT	ENSP00000433168.2:p.Ile2588PhefsTer?
ENST00000530893.7:c.7393_7395delinsTT	ENSP00000499438.2:p.Ile2465PhefsTer?
ENST00000665585.2:c.7762_7764delinsTT	ENSP00000499570.2:p.Ile2588PhefsTer?
ENST00000666593.2:c.7762_7764delinsTT	ENSP00000499256.2:p.Ile2588PhefsTer?
ENST00000700202.2:c.7762_7764delinsTT	ENSP00000514856.2:p.Ile2588PhefsTer?
ENST00000700202.1:c.229_231delinsTT	ENSP00000514856.1:p.Ile77PhefsTer?
ENST00000380152.8:c.7762_7764delinsTT MANE Select	ENSP00000369497.3:p.Ile2588PhefsTer?
ENST00000544455.6:c.7762_7764delinsTT	ENSP00000439902.1:p.Ile2588PhefsTer?
ENST00000614259.2:c.7762_7764delinsTT	ENSP00000506251.1:p.Ile2588PhefsTer21
ENST00000665585.1:c.327_329delinsTT
ENST00000680887.1:c.7762_7764delinsTT	ENSP00000505508.1:p.Ile2588PhefsTer?
ENST00000380152.7:c.7762_7764delinsTT	ENSP00000369497.3:p.Ile2588PhefsTer?
ENST00000544455.5:c.7762_7764delinsTT	ENSP00000439902.1:p.Ile2588PhefsTer?
ENST00000614259.1:n.7762_7764delinsTT
NM_000059.3:c.7762_7764delinsTT , LRG_293t1:c.7762_7764delinsTT	NP_000050.2:p.Ile2588PhefsTer?
XM_011535203.1:c.7762_7764delinsTT	XP_011533505.1:p.Ile2588PhefsTer?
XM_011535204.1:c.7666_7668delinsTT	XP_011533506.1:p.Ile2556PhefsTer?
XM_011535205.1:c.7762_7764delinsTT	XP_011533507.1:p.Ile2588PhefsTer?
NM_000059.4:c.7762_7764delinsTT MANE Select	NP_000050.3:p.Ile2588PhefsTer?