Canonical Allele Identifier: CA2196373725
Gene: CHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92978176C= , CM000677.2:g.92978176C= GRCh38
NC_000015.9:g.93521406C= , CM000677.1:g.93521406C= GRCh37
NC_000015.8:g.91322410C= NCBI36
NG_012826.1:g.82856C=
NG_012826.2:g.82856C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000625662.3:c.2085-58C=
ENST00000628118.2:c.1554C=
ENST00000700551.1:c.*1409-58C= ENSP00000515057.1:n.*1409-58C=
ENST00000394196.9:c.2578-58C= MANE Select ENSP00000377747.4:n.2578-58C=
ENST00000635856.1:n.3150-58C=
ENST00000636306.1:n.138-58C=
ENST00000636881.1:c.1949-58C=
ENST00000637572.1:n.3322-58C=
ENST00000394196.8:c.2578-58C= ENSP00000377747.4:n.2578-58C=
ENST00000625463.1:c.118-58C= ENSP00000486391.1:n.118-58C=
ENST00000626874.2:c.2578-58C= ENSP00000486629.1:n.2578-58C=
ENST00000628118.1:n.299C=
NM_001271.3:c.2578-58C= NP_001262.3:n.2578-58C=
NM_001271.4:c.2578-58C= MANE Select NP_001262.3:n.2578-58C=