Canonical Allele Identifier: CA915946882

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 827322
• ClinVar RCV Id: RCV001026936 ; RCV001224427
• dbSNP Id: rs1593924144

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362619_32362620delinsTT , CM000675.2:g.32362619_32362620delinsTT	GRCh38
NC_000013.10:g.32936756_32936757delinsTT , CM000675.1:g.32936756_32936757delinsTT	GRCh37
NC_000013.9:g.31834756_31834757delinsTT	NCBI36
NG_012772.3:g.52140_52141delinsTT , LRG_293:g.52140_52141delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7902_7903delinsTT	ENSP00000434898.2:p.Met2634IlefsTer2
ENST00000528762.2:c.7902_7903delinsTT	ENSP00000433168.2:p.Met2634IlefsTer2
ENST00000530893.7:c.7533_7534delinsTT	ENSP00000499438.2:p.Met2511IlefsTer2
ENST00000665585.2:c.7902_7903delinsTT	ENSP00000499570.2:p.Met2634IlefsTer2
ENST00000666593.2:c.7902_7903delinsTT	ENSP00000499256.2:p.Met2634IlefsTer2
ENST00000700202.2:c.7902_7903delinsTT	ENSP00000514856.2:p.Met2634IlefsTer2
ENST00000700202.1:c.369_370delinsTT	ENSP00000514856.1:p.Met123IlefsTer2
ENST00000380152.8:c.7902_7903delinsTT MANE Select	ENSP00000369497.3:p.Met2634IlefsTer2
ENST00000544455.6:c.7902_7903delinsTT	ENSP00000439902.1:p.Met2634IlefsTer2
ENST00000614259.2:c.7910_7911delinsTT	ENSP00000506251.1:p.Trp2637Phe
ENST00000665585.1:c.467_468delinsTT
ENST00000680887.1:c.7902_7903delinsTT	ENSP00000505508.1:p.Met2634IlefsTer2
ENST00000380152.7:c.7902_7903delinsTT	ENSP00000369497.3:p.Met2634IlefsTer2
ENST00000544455.5:c.7902_7903delinsTT	ENSP00000439902.1:p.Met2634IlefsTer2
ENST00000614259.1:n.7910_7911delinsTT
NM_000059.3:c.7902_7903delinsTT , LRG_293t1:c.7902_7903delinsTT	NP_000050.2:p.Met2634IlefsTer2
XM_011535203.1:c.7902_7903delinsTT	XP_011533505.1:p.Met2634IlefsTer2
XM_011535204.1:c.7806_7807delinsTT	XP_011533506.1:p.Met2602IlefsTer2
XM_011535205.1:c.7902_7903delinsTT	XP_011533507.1:p.Met2634IlefsTer2
NM_000059.4:c.7902_7903delinsTT MANE Select	NP_000050.3:p.Met2634IlefsTer2