Canonical Allele Identifier: CA2196373754
Gene: CHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92978253C= , CM000677.2:g.92978253C= GRCh38
NC_000015.9:g.93521483C= , CM000677.1:g.93521483C= GRCh37
NC_000015.8:g.91322487C= NCBI36
NG_012826.1:g.82933C=
NG_012826.2:g.82933C=

Transcript Alleles

HGVS Amino-acid change
ENST00000625662.3:c.2104C=
ENST00000628118.2:c.1631C=
ENST00000700551.1:c.*1428C= ENSP00000515057.1:n.*1428C=
ENST00000394196.9:c.2597C= MANE Select ENSP00000377747.4:p.Ser866=
ENST00000635856.1:n.3169C=
ENST00000636306.1:n.157C=
ENST00000636881.1:c.1968C=
ENST00000637572.1:n.3341C=
ENST00000394196.8:c.2597C= ENSP00000377747.4:p.Ser866=
ENST00000625463.1:c.137C= ENSP00000486391.1:p.Ser46=
ENST00000626874.2:c.2597C= ENSP00000486629.1:p.Ser866=
ENST00000628118.1:n.376C=
NM_001271.3:c.2597C= NP_001262.3:p.Ser866=
NM_001271.4:c.2597C= MANE Select NP_001262.3:p.Ser866=