Canonical Allele Identifier: CA018995

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51545
• ClinVar RCV Id: RCV000044288 ; RCV000077316 ; RCV000131539 ; RCV000212232 ; RCV000468572 ; RCV000735542 ; RCV001357468
• dbSNP Id: rs80359406
• gnomAD v2: 13-32912345-GA-G
• gnomAD v3: 13-32338208-GA-G
• gnomAD v4: 13-32338208-GA-G
• COSMIC: COSM6005621
• MyVariant Identifiers: chr13:g.32912352del (hg19) ; chr13:g.32912348del (hg19) ; chr13:g.32912346del (hg19) ; chr13:g.32338215del (hg38) ; chr13:g.32338209del (hg38)
• PubMed: PMID:11857748 ; PMID:12673801 ; PMID:12942367 ; PMID:12955716 ; PMID:23199084 ; PMID:24156927

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338215del , CM000675.2:g.32338215del	GRCh38
NC_000013.10:g.32912352del , CM000675.1:g.32912352del	GRCh37
NC_000013.9:g.31810352del	NCBI36
NG_012772.3:g.27736del , LRG_293:g.27736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3860del	ENSP00000434898.2:p.Asn1287IlefsTer6
ENST00000528762.2:c.3860del	ENSP00000433168.2:p.Asn1287IlefsTer6
ENST00000530893.7:c.3491del	ENSP00000499438.2:p.Asn1164IlefsTer6
ENST00000665585.2:c.3860del	ENSP00000499570.2:p.Asn1287IlefsTer6
ENST00000666593.2:c.3860del	ENSP00000499256.2:p.Asn1287IlefsTer6
ENST00000700202.2:c.3860del	ENSP00000514856.2:p.Asn1287IlefsTer6
ENST00000380152.8:c.3860del MANE Select	ENSP00000369497.3:p.Asn1287IlefsTer6
ENST00000544455.6:c.3860del	ENSP00000439902.1:p.Asn1287IlefsTer6
ENST00000614259.2:c.3860del	ENSP00000506251.1:p.Asn1287IlefsTer6
ENST00000680887.1:c.3860del	ENSP00000505508.1:p.Asn1287IlefsTer6
ENST00000380152.7:c.3860del	ENSP00000369497.3:p.Asn1287IlefsTer6
ENST00000544455.5:c.3860del	ENSP00000439902.1:p.Asn1287IlefsTer6
ENST00000614259.1:n.3860del
NM_000059.3:c.3860del , LRG_293t1:c.3860del	NP_000050.2:p.Asn1287IlefsTer6
XM_011535203.1:c.3860del	XP_011533505.1:p.Asn1287IlefsTer6
XM_011535204.1:c.3860del	XP_011533506.1:p.Asn1287IlefsTer6
XM_011535205.1:c.3860del	XP_011533507.1:p.Asn1287IlefsTer6
NM_000059.4:c.3860del MANE Select	NP_000050.3:p.Asn1287IlefsTer6