Canonical Allele Identifier: CA021993

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 37957
• ClinVar RCV Id: RCV000031538 ; RCV000074536 ; RCV000162923 ; RCV000235139 ; RCV001002437 ; RCV001255330 ; RCV001262740 ; RCV001357029
• dbSNP Id: rs80359505
• ExAC: 13:32913794 CTT / C
• gnomAD v2: 13-32913794-CTT-C
• gnomAD v3: 13-32339657-CTT-C
• gnomAD v4: 13-32339657-CTT-C
• MyVariant Identifiers: chr13:g.32913795_32913796del (hg19) ; chr13:g.32339658_32339659del (hg38)
• PubMed: PMID:10923033 ; PMID:10969800 ; PMID:18182994 ; PMID:21702907 ; PMID:21895635 ; PMID:22711857 ; PMID:22762150 ; PMID:23569316 ; PMID:24156927 ; PMID:24312913 ; PMID:24764757 ; PMID:27616075

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339658_32339659del , CM000675.2:g.32339658_32339659del	GRCh38
NC_000013.10:g.32913795_32913796del , CM000675.1:g.32913795_32913796del	GRCh37
NC_000013.9:g.31811795_31811796del	NCBI36
NG_012772.3:g.29179_29180del , LRG_293:g.29179_29180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5303_5304del	ENSP00000434898.2:p.Leu1768ArgfsTer5
ENST00000528762.2:c.5303_5304del	ENSP00000433168.2:p.Leu1768ArgfsTer5
ENST00000530893.7:c.4934_4935del	ENSP00000499438.2:p.Leu1645ArgfsTer5
ENST00000665585.2:c.5303_5304del	ENSP00000499570.2:p.Leu1768ArgfsTer5
ENST00000666593.2:c.5303_5304del	ENSP00000499256.2:p.Leu1768ArgfsTer5
ENST00000700202.2:c.5303_5304del	ENSP00000514856.2:p.Leu1768ArgfsTer5
ENST00000380152.8:c.5303_5304del MANE Select	ENSP00000369497.3:p.Leu1768ArgfsTer5
ENST00000544455.6:c.5303_5304del	ENSP00000439902.1:p.Leu1768ArgfsTer5
ENST00000614259.2:c.5303_5304del	ENSP00000506251.1:p.Leu1768ArgfsTer5
ENST00000680887.1:c.5303_5304del	ENSP00000505508.1:p.Leu1768ArgfsTer5
ENST00000380152.7:c.5303_5304del	ENSP00000369497.3:p.Leu1768ArgfsTer5
ENST00000544455.5:c.5303_5304del	ENSP00000439902.1:p.Leu1768ArgfsTer5
ENST00000614259.1:n.5303_5304del
NM_000059.3:c.5303_5304del , LRG_293t1:c.5303_5304del	NP_000050.2:p.Leu1768ArgfsTer5
XM_011535203.1:c.5303_5304del	XP_011533505.1:p.Leu1768ArgfsTer5
XM_011535204.1:c.5303_5304del	XP_011533506.1:p.Leu1768ArgfsTer5
XM_011535205.1:c.5303_5304del	XP_011533507.1:p.Leu1768ArgfsTer5
NM_000059.4:c.5303_5304del MANE Select	NP_000050.3:p.Leu1768ArgfsTer5