Canonical Allele Identifier: CA024079

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38047
• ClinVar RCV Id: RCV001310130 ; RCV003162278 ; RCV003473202
• dbSNP Id: rs80359596
• gnomAD v3: 13-32340816-ATC-A
• gnomAD v4: 13-32340816-ATC-A
• COSMIC: COSM5547325 ; COSM5547326
• MyVariant Identifiers: chr13:g.32914960_32914961del (hg19) ; chr13:g.32914954_32914955del (hg19) ; chr13:g.32340823_32340824del (hg38) ; chr13:g.32340817_32340818del (hg38)
• PubMed: PMID:8988179 ; PMID:9145678 ; PMID:10323242 ; PMID:10739756 ; PMID:11030417 ; PMID:11056688 ; PMID:12181777 ; PMID:12543786 ; PMID:15024741 ; PMID:15340362 ; PMID:16931905 ; PMID:17224268 ; PMID:17591842 ; PMID:18489799 ; PMID:18821011 ; PMID:21989927 ; PMID:23096105 ; PMID:26187060

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340823_32340824del , CM000675.2:g.32340823_32340824del	GRCh38
NC_000013.10:g.32914960_32914961del , CM000675.1:g.32914960_32914961del	GRCh37
NC_000013.9:g.31812960_31812961del	NCBI36
NG_012772.3:g.30344_30345del , LRG_293:g.30344_30345del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.6468_6469del	ENSP00000434898.2:p.Gln2157IlefsTer18
ENST00000528762.2:c.6468_6469del	ENSP00000433168.2:p.Gln2157IlefsTer18
ENST00000530893.7:c.6099_6100del	ENSP00000499438.2:p.Gln2034IlefsTer18
ENST00000665585.2:c.6468_6469del	ENSP00000499570.2:p.Gln2157IlefsTer18
ENST00000666593.2:c.6468_6469del	ENSP00000499256.2:p.Gln2157IlefsTer18
ENST00000700202.2:c.6468_6469del	ENSP00000514856.2:p.Gln2157IlefsTer18
ENST00000380152.8:c.6468_6469del MANE Select	ENSP00000369497.3:p.Gln2157IlefsTer18
ENST00000544455.6:c.6468_6469del	ENSP00000439902.1:p.Gln2157IlefsTer18
ENST00000614259.2:c.6468_6469del	ENSP00000506251.1:p.Gln2157IlefsTer18
ENST00000680887.1:c.6468_6469del	ENSP00000505508.1:p.Gln2157IlefsTer18
ENST00000380152.7:c.6468_6469del	ENSP00000369497.3:p.Gln2157IlefsTer18
ENST00000544455.5:c.6468_6469del	ENSP00000439902.1:p.Gln2157IlefsTer18
ENST00000614259.1:n.6468_6469del
NM_000059.3:c.6468_6469del , LRG_293t1:c.6468_6469del	NP_000050.2:p.Gln2157IlefsTer18
XM_011535203.1:c.6468_6469del	XP_011533505.1:p.Gln2157IlefsTer18
XM_011535204.1:c.6468_6469del	XP_011533506.1:p.Gln2157IlefsTer18
XM_011535205.1:c.6468_6469del	XP_011533507.1:p.Gln2157IlefsTer18
NM_000059.4:c.6468_6469del MANE Select	NP_000050.3:p.Gln2157IlefsTer18