Canonical Allele Identifier: CA023040

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 9320
• ClinVar RCV Id: RCV000009905 ; RCV000044728 ; RCV000131120 ; RCV000160297 ; RCV000461157 ; RCV000735574 ; RCV001310125 ; RCV002496315 ; RCV003162224
• dbSNP Id: rs80359530
• gnomAD v2: 13-32914209-ACT-A
• gnomAD v4: 13-32340072-ACT-A
• MyVariant Identifiers: chr13:g.32914214_32914215del (hg19) ; chr13:g.32914210_32914211del (hg19) ; chr13:g.32340077_32340078del (hg38) ; chr13:g.32340073_32340074del (hg38)
• PubMed: PMID:8524414 ; PMID:16324400 ; PMID:19353265 ; PMID:20683152 ; PMID:20736950 ; PMID:20927582 ; PMID:21324516 ; PMID:22535016 ; PMID:24010542 ; PMID:25136594 ; PMID:25863477 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340077_32340078del , CM000675.2:g.32340077_32340078del	GRCh38
NC_000013.10:g.32914214_32914215del , CM000675.1:g.32914214_32914215del	GRCh37
NC_000013.9:g.31812214_31812215del	NCBI36
NG_012772.3:g.29598_29599del , LRG_293:g.29598_29599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5722_5723del	ENSP00000434898.2:p.Leu1908ArgfsTer2
ENST00000528762.2:c.5722_5723del	ENSP00000433168.2:p.Leu1908ArgfsTer2
ENST00000530893.7:c.5353_5354del	ENSP00000499438.2:p.Leu1785ArgfsTer2
ENST00000665585.2:c.5722_5723del	ENSP00000499570.2:p.Leu1908ArgfsTer2
ENST00000666593.2:c.5722_5723del	ENSP00000499256.2:p.Leu1908ArgfsTer2
ENST00000700202.2:c.5722_5723del	ENSP00000514856.2:p.Leu1908ArgfsTer2
ENST00000380152.8:c.5722_5723del MANE Select	ENSP00000369497.3:p.Leu1908ArgfsTer2
ENST00000544455.6:c.5722_5723del	ENSP00000439902.1:p.Leu1908ArgfsTer2
ENST00000614259.2:c.5722_5723del	ENSP00000506251.1:p.Leu1908ArgfsTer2
ENST00000680887.1:c.5722_5723del	ENSP00000505508.1:p.Leu1908ArgfsTer2
ENST00000380152.7:c.5722_5723del	ENSP00000369497.3:p.Leu1908ArgfsTer2
ENST00000544455.5:c.5722_5723del	ENSP00000439902.1:p.Leu1908ArgfsTer2
ENST00000614259.1:n.5722_5723del
NM_000059.3:c.5722_5723del , LRG_293t1:c.5722_5723del	NP_000050.2:p.Leu1908ArgfsTer2
XM_011535203.1:c.5722_5723del	XP_011533505.1:p.Leu1908ArgfsTer2
XM_011535204.1:c.5722_5723del	XP_011533506.1:p.Leu1908ArgfsTer2
XM_011535205.1:c.5722_5723del	XP_011533507.1:p.Leu1908ArgfsTer2
NM_000059.4:c.5722_5723del MANE Select	NP_000050.3:p.Leu1908ArgfsTer2