Canonical Allele Identifier: CA016637

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51362
• ClinVar RCV Id: RCV000113108 ; RCV000221597 ; RCV000482589 ; RCV000657153 ; RCV001081551 ; RCV001798230
• dbSNP Id: rs80359360
• gnomAD v2: 13-32911348-AGAG-A
• gnomAD v4: 13-32337211-AGAG-A
• MyVariant Identifiers: chr13:g.32911352_32911354del (hg19) ; chr13:g.32911349_32911351del (hg19) ; chr13:g.32337215_32337217del (hg38) ; chr13:g.32337212_32337214del (hg38)
• PubMed: PMID:10923033

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337215_32337217del , CM000675.2:g.32337215_32337217del	GRCh38
NC_000013.10:g.32911352_32911354del , CM000675.1:g.32911352_32911354del	GRCh37
NC_000013.9:g.31809352_31809354del	NCBI36
NG_012772.3:g.26736_26738del , LRG_293:g.26736_26738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2860_2862del	ENSP00000434898.2:p.Glu954del
ENST00000528762.2:c.2860_2862del	ENSP00000433168.2:p.Glu954del
ENST00000530893.7:c.2491_2493del	ENSP00000499438.2:p.Glu831del
ENST00000665585.2:c.2860_2862del	ENSP00000499570.2:p.Glu954del
ENST00000666593.2:c.2860_2862del	ENSP00000499256.2:p.Glu954del
ENST00000700202.2:c.2860_2862del	ENSP00000514856.2:p.Glu954del
ENST00000380152.8:c.2860_2862del MANE Select	ENSP00000369497.3:p.Glu954del
ENST00000544455.6:c.2860_2862del	ENSP00000439902.1:p.Glu954del
ENST00000614259.2:c.2860_2862del	ENSP00000506251.1:p.Glu954del
ENST00000680887.1:c.2860_2862del	ENSP00000505508.1:p.Glu954del
ENST00000380152.7:c.2860_2862del	ENSP00000369497.3:p.Glu954del
ENST00000544455.5:c.2860_2862del	ENSP00000439902.1:p.Glu954del
ENST00000614259.1:n.2860_2862del
NM_000059.3:c.2860_2862del , LRG_293t1:c.2860_2862del	NP_000050.2:p.Glu954del
XM_011535203.1:c.2860_2862del	XP_011533505.1:p.Glu954del
XM_011535204.1:c.2860_2862del	XP_011533506.1:p.Glu954del
XM_011535205.1:c.2860_2862del	XP_011533507.1:p.Glu954del
NM_000059.4:c.2860_2862del MANE Select	NP_000050.3:p.Glu954del