Canonical Allele Identifier: CA2196372185
Gene: CHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92974940A= , CM000677.2:g.92974940A= GRCh38
NC_000015.9:g.93518170A= , CM000677.1:g.93518170A= GRCh37
NC_000015.8:g.91319174A= NCBI36
NG_012826.1:g.79620A=
NG_012826.2:g.79620A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000625662.3:c.2074A=
ENST00000628118.2:c.1515A=
ENST00000700550.1:c.*561A= ENSP00000515056.1:n.*561A=
ENST00000700551.1:c.*1398A= ENSP00000515057.1:n.*1398A=
ENST00000394196.9:c.2567A= MANE Select ENSP00000377747.4:p.Asp856=
ENST00000635856.1:n.3139A=
ENST00000636306.1:n.127A=
ENST00000636881.1:c.1938A=
ENST00000637572.1:n.3311A=
ENST00000394196.8:c.2567A= ENSP00000377747.4:p.Asp856=
ENST00000625463.1:c.107A= ENSP00000486391.1:p.Asp36=
ENST00000626874.2:c.2567A= ENSP00000486629.1:p.Asp856=
ENST00000628118.1:n.260A=
NM_001271.3:c.2567A= NP_001262.3:p.Asp856=
NM_001271.4:c.2567A= MANE Select NP_001262.3:p.Asp856=