Canonical Allele Identifier: CA018990

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51544
• ClinVar RCV Id: RCV000113230 ; RCV000565441 ; RCV000589123
• dbSNP Id: rs80359410
• MyVariant Identifiers: chr13:g.32912352_32912355del (hg19) ; chr13:g.32338215_32338218del (hg38)
• PubMed: PMID:22762150

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338215_32338218del , CM000675.2:g.32338215_32338218del	GRCh38
NC_000013.10:g.32912352_32912355del , CM000675.1:g.32912352_32912355del	GRCh37
NC_000013.9:g.31810352_31810355del	NCBI36
NG_012772.3:g.27736_27739del , LRG_293:g.27736_27739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3860_3863del	ENSP00000434898.2:p.Asn1287IlefsTer5
ENST00000528762.2:c.3860_3863del	ENSP00000433168.2:p.Asn1287IlefsTer5
ENST00000530893.7:c.3491_3494del	ENSP00000499438.2:p.Asn1164IlefsTer5
ENST00000665585.2:c.3860_3863del	ENSP00000499570.2:p.Asn1287IlefsTer5
ENST00000666593.2:c.3860_3863del	ENSP00000499256.2:p.Asn1287IlefsTer5
ENST00000700202.2:c.3860_3863del	ENSP00000514856.2:p.Asn1287IlefsTer5
ENST00000380152.8:c.3860_3863del MANE Select	ENSP00000369497.3:p.Asn1287IlefsTer5
ENST00000544455.6:c.3860_3863del	ENSP00000439902.1:p.Asn1287IlefsTer5
ENST00000614259.2:c.3860_3863del	ENSP00000506251.1:p.Asn1287IlefsTer5
ENST00000680887.1:c.3860_3863del	ENSP00000505508.1:p.Asn1287IlefsTer5
ENST00000380152.7:c.3860_3863del	ENSP00000369497.3:p.Asn1287IlefsTer5
ENST00000544455.5:c.3860_3863del	ENSP00000439902.1:p.Asn1287IlefsTer5
ENST00000614259.1:n.3860_3863del
NM_000059.3:c.3860_3863del , LRG_293t1:c.3860_3863del	NP_000050.2:p.Asn1287IlefsTer5
XM_011535203.1:c.3860_3863del	XP_011533505.1:p.Asn1287IlefsTer5
XM_011535204.1:c.3860_3863del	XP_011533506.1:p.Asn1287IlefsTer5
XM_011535205.1:c.3860_3863del	XP_011533507.1:p.Asn1287IlefsTer5
NM_000059.4:c.3860_3863del MANE Select	NP_000050.3:p.Asn1287IlefsTer5