Canonical Allele Identifier: CA025217

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38113
• ClinVar RCV Id: RCV000113805 ; RCV000131089 ; RCV000257916 ; RCV000461632 ; RCV000485798
• dbSNP Id: rs80359672
• gnomAD v4: 13-32357794-CAG-C
• MyVariant Identifiers: chr13:g.32931934_32931935del (hg19) ; chr13:g.32357797_32357798del (hg38)
• PubMed: PMID:15131399 ; PMID:16683254 ; PMID:26187060 ; PMID:27083178

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32357797_32357798del , CM000675.2:g.32357797_32357798del	GRCh38
NC_000013.10:g.32931934_32931935del , CM000675.1:g.32931934_32931935del	GRCh37
NC_000013.9:g.31829934_31829935del	NCBI36
NG_012772.3:g.47318_47319del , LRG_293:g.47318_47319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7673_7674del	ENSP00000434898.2:p.Glu2558ValfsTer7
ENST00000528762.2:c.7673_7674del	ENSP00000433168.2:p.Glu2558ValfsTer7
ENST00000530893.7:c.7304_7305del	ENSP00000499438.2:p.Glu2435ValfsTer7
ENST00000665585.2:c.7673_7674del	ENSP00000499570.2:p.Glu2558ValfsTer7
ENST00000666593.2:c.7673_7674del	ENSP00000499256.2:p.Glu2558ValfsTer7
ENST00000700202.2:c.7673_7674del	ENSP00000514856.2:p.Glu2558ValfsTer7
ENST00000700202.1:c.140_141del	ENSP00000514856.1:p.Glu47ValfsTer7
ENST00000380152.8:c.7673_7674del MANE Select	ENSP00000369497.3:p.Glu2558ValfsTer7
ENST00000544455.6:c.7673_7674del	ENSP00000439902.1:p.Glu2558ValfsTer7
ENST00000614259.2:c.7673_7674del	ENSP00000506251.1:p.Glu2558ValfsTer7
ENST00000665585.1:c.238_239del
ENST00000680887.1:c.7673_7674del	ENSP00000505508.1:p.Glu2558ValfsTer7
ENST00000380152.7:c.7673_7674del	ENSP00000369497.3:p.Glu2558ValfsTer7
ENST00000544455.5:c.7673_7674del	ENSP00000439902.1:p.Glu2558ValfsTer7
ENST00000614259.1:n.7673_7674del
NM_000059.3:c.7673_7674del , LRG_293t1:c.7673_7674del	NP_000050.2:p.Glu2558ValfsTer7
XM_011535203.1:c.7673_7674del	XP_011533505.1:p.Glu2558ValfsTer7
XM_011535204.1:c.7577_7578del	XP_011533506.1:p.Glu2526ValfsTer7
XM_011535205.1:c.7673_7674del	XP_011533507.1:p.Glu2558ValfsTer7
NM_000059.4:c.7673_7674del MANE Select	NP_000050.3:p.Glu2558ValfsTer7