Canonical Allele Identifier: CA2196372186
Gene: CHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92974941T= , CM000677.2:g.92974941T= GRCh38
NC_000015.9:g.93518171T= , CM000677.1:g.93518171T= GRCh37
NC_000015.8:g.91319175T= NCBI36
NG_012826.1:g.79621T=
NG_012826.2:g.79621T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000625662.3:c.2075T=
ENST00000628118.2:c.1516T=
ENST00000700550.1:c.*562T= ENSP00000515056.1:n.*562T=
ENST00000700551.1:c.*1399T= ENSP00000515057.1:n.*1399T=
ENST00000394196.9:c.2568T= MANE Select ENSP00000377747.4:p.Asp856=
ENST00000635856.1:n.3140T=
ENST00000636306.1:n.128T=
ENST00000636881.1:c.1939T=
ENST00000637572.1:n.3312T=
ENST00000394196.8:c.2568T= ENSP00000377747.4:p.Asp856=
ENST00000625463.1:c.108T= ENSP00000486391.1:p.Asp36=
ENST00000626874.2:c.2568T= ENSP00000486629.1:p.Asp856=
ENST00000628118.1:n.261T=
NM_001271.3:c.2568T= NP_001262.3:p.Asp856=
NM_001271.4:c.2568T= MANE Select NP_001262.3:p.Asp856=