Canonical Allele Identifier: CA015656

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51307
• ClinVar RCV Id: RCV000044017 ; RCV000113062 ; RCV000561096 ; RCV000657224 ; RCV003473318
• dbSNP Id: rs80359334
• MyVariant Identifiers: chr13:g.32911056_32911057del (hg19) ; chr13:g.32336919_32336920del (hg38)
• PubMed: PMID:18286383 ; PMID:26295337 ; PMID:26564481

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336919_32336920del , CM000675.2:g.32336919_32336920del	GRCh38
NC_000013.10:g.32911056_32911057del , CM000675.1:g.32911056_32911057del	GRCh37
NC_000013.9:g.31809056_31809057del	NCBI36
NG_012772.3:g.26440_26441del , LRG_293:g.26440_26441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2564_2565del	ENSP00000434898.2:p.Thr855LysfsTer25
ENST00000528762.2:c.2564_2565del	ENSP00000433168.2:p.Thr855LysfsTer25
ENST00000530893.7:c.2195_2196del	ENSP00000499438.2:p.Thr732LysfsTer25
ENST00000665585.2:c.2564_2565del	ENSP00000499570.2:p.Thr855LysfsTer25
ENST00000666593.2:c.2564_2565del	ENSP00000499256.2:p.Thr855LysfsTer25
ENST00000700202.2:c.2564_2565del	ENSP00000514856.2:p.Thr855LysfsTer25
ENST00000380152.8:c.2564_2565del MANE Select	ENSP00000369497.3:p.Thr855LysfsTer25
ENST00000544455.6:c.2564_2565del	ENSP00000439902.1:p.Thr855LysfsTer25
ENST00000614259.2:c.2564_2565del	ENSP00000506251.1:p.Thr855LysfsTer25
ENST00000680887.1:c.2564_2565del	ENSP00000505508.1:p.Thr855LysfsTer25
ENST00000380152.7:c.2564_2565del	ENSP00000369497.3:p.Thr855LysfsTer25
ENST00000544455.5:c.2564_2565del	ENSP00000439902.1:p.Thr855LysfsTer25
ENST00000614259.1:n.2564_2565del
NM_000059.3:c.2564_2565del , LRG_293t1:c.2564_2565del	NP_000050.2:p.Thr855LysfsTer25
XM_011535203.1:c.2564_2565del	XP_011533505.1:p.Thr855LysfsTer25
XM_011535204.1:c.2564_2565del	XP_011533506.1:p.Thr855LysfsTer25
XM_011535205.1:c.2564_2565del	XP_011533507.1:p.Thr855LysfsTer25
NM_000059.4:c.2564_2565del MANE Select	NP_000050.3:p.Thr855LysfsTer25