Canonical Allele Identifier: CA2082813609
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340703_32340705delinsCTG , CM000675.2:g.32340703_32340705delinsCTG GRCh38
NC_000013.10:g.32914840_32914842delinsCTG , CM000675.1:g.32914840_32914842delinsCTG GRCh37
NC_000013.9:g.31812840_31812842delinsCTG NCBI36
NG_012772.3:g.30224_30226delinsCTG , LRG_293:g.30224_30226delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.6348_6350delinsCTG ENSP00000434898.2:p.His2116=
ENST00000528762.2:c.6348_6350delinsCTG ENSP00000433168.2:p.His2116=
ENST00000530893.7:c.5979_5981delinsCTG ENSP00000499438.2:p.His1993=
ENST00000665585.2:c.6348_6350delinsCTG ENSP00000499570.2:p.His2116=
ENST00000666593.2:c.6348_6350delinsCTG ENSP00000499256.2:p.His2116=
ENST00000700202.2:c.6348_6350delinsCTG ENSP00000514856.2:p.His2116=
ENST00000380152.8:c.6348_6350delinsCTG MANE Select ENSP00000369497.3:p.His2116=
ENST00000544455.6:c.6348_6350delinsCTG ENSP00000439902.1:p.His2116=
ENST00000614259.2:c.6348_6350delinsCTG ENSP00000506251.1:p.His2116=
ENST00000680887.1:c.6348_6350delinsCTG ENSP00000505508.1:p.His2116=
ENST00000380152.7:c.6348_6350delinsCTG ENSP00000369497.3:p.His2116=
ENST00000544455.5:c.6348_6350delinsCTG ENSP00000439902.1:p.His2116=
ENST00000614259.1:n.6348_6350delinsCTG
NM_000059.3:c.6348_6350delinsCTG , LRG_293t1:c.6348_6350delinsCTG NP_000050.2:p.His2116=
XM_011535203.1:c.6348_6350delinsCTG XP_011533505.1:p.His2116=
XM_011535204.1:c.6348_6350delinsCTG XP_011533506.1:p.His2116=
XM_011535205.1:c.6348_6350delinsCTG XP_011533507.1:p.His2116=
NM_000059.4:c.6348_6350delinsCTG MANE Select NP_000050.3:p.His2116=