Canonical Allele Identifier: CA393893784
Gene: CHD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92978298C>G , CM000677.2:g.92978298C>G GRCh38
NC_000015.9:g.93521528C>G , CM000677.1:g.93521528C>G GRCh37
NC_000015.8:g.91322532C>G NCBI36
NG_012826.1:g.82978C>G
NG_012826.2:g.82978C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000625662.3:c.2149C>G
ENST00000628118.2:c.1676C>G
ENST00000700551.1:c.*1473C>G ENSP00000515057.1:n.*1473C>G
ENST00000394196.9:c.2642C>G MANE Select ENSP00000377747.4:p.Thr881Arg
ENST00000635856.1:n.3214C>G
ENST00000636306.1:n.202C>G
ENST00000636881.1:c.2013C>G
ENST00000637572.1:n.3386C>G
ENST00000394196.8:c.2642C>G ENSP00000377747.4:p.Thr881Arg
ENST00000625463.1:c.182C>G ENSP00000486391.1:p.Thr61Arg
ENST00000626874.2:c.2642C>G ENSP00000486629.1:p.Thr881Arg
ENST00000628118.1:n.421C>G
NM_001271.3:c.2642C>G NP_001262.3:p.Thr881Arg
NM_001271.4:c.2642C>G MANE Select NP_001262.3:p.Thr881Arg