Canonical Allele Identifier: CA024219

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52135
• ClinVar RCV Id: RCV000113614
• dbSNP Id: rs80359610
• MyVariant Identifiers: chr13:g.32915118_32915119del (hg19) ; chr13:g.32340981_32340982del (hg38)
• PubMed: PMID:21702907

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340981_32340982del , CM000675.2:g.32340981_32340982del	GRCh38
NC_000013.10:g.32915118_32915119del , CM000675.1:g.32915118_32915119del	GRCh37
NC_000013.9:g.31813118_31813119del	NCBI36
NG_012772.3:g.30502_30503del , LRG_293:g.30502_30503del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.6626_6627del	ENSP00000434898.2:p.Ile2209ArgfsTer15
ENST00000528762.2:c.6626_6627del	ENSP00000433168.2:p.Ile2209ArgfsTer15
ENST00000530893.7:c.6257_6258del	ENSP00000499438.2:p.Ile2086ArgfsTer15
ENST00000665585.2:c.6626_6627del	ENSP00000499570.2:p.Ile2209ArgfsTer15
ENST00000666593.2:c.6626_6627del	ENSP00000499256.2:p.Ile2209ArgfsTer15
ENST00000700202.2:c.6626_6627del	ENSP00000514856.2:p.Ile2209ArgfsTer15
ENST00000380152.8:c.6626_6627del MANE Select	ENSP00000369497.3:p.Ile2209ArgfsTer15
ENST00000544455.6:c.6626_6627del	ENSP00000439902.1:p.Ile2209ArgfsTer15
ENST00000614259.2:c.6626_6627del	ENSP00000506251.1:p.Ile2209ArgfsTer15
ENST00000680887.1:c.6626_6627del	ENSP00000505508.1:p.Ile2209ArgfsTer15
ENST00000380152.7:c.6626_6627del	ENSP00000369497.3:p.Ile2209ArgfsTer15
ENST00000544455.5:c.6626_6627del	ENSP00000439902.1:p.Ile2209ArgfsTer15
ENST00000614259.1:n.6626_6627del
NM_000059.3:c.6626_6627del , LRG_293t1:c.6626_6627del	NP_000050.2:p.Ile2209ArgfsTer15
XM_011535203.1:c.6626_6627del	XP_011533505.1:p.Ile2209ArgfsTer15
XM_011535204.1:c.6626_6627del	XP_011533506.1:p.Ile2209ArgfsTer15
XM_011535205.1:c.6626_6627del	XP_011533507.1:p.Ile2209ArgfsTer15
NM_000059.4:c.6626_6627del MANE Select	NP_000050.3:p.Ile2209ArgfsTer15