Canonical Allele Identifier: CA393893914
Gene: CHD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92978352C>A , CM000677.2:g.92978352C>A GRCh38
NC_000015.9:g.93521582C>A , CM000677.1:g.93521582C>A GRCh37
NC_000015.8:g.91322586C>A NCBI36
NG_012826.1:g.83032C>A
NG_012826.2:g.83032C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000625662.3:c.2203C>A
ENST00000628118.2:c.1730C>A
ENST00000700551.1:c.*1527C>A ENSP00000515057.1:n.*1527C>A
ENST00000394196.9:c.2696C>A MANE Select ENSP00000377747.4:p.Ala899Asp
ENST00000635856.1:n.3268C>A
ENST00000636306.1:n.256C>A
ENST00000636881.1:c.2067C>A
ENST00000637572.1:n.3440C>A
ENST00000394196.8:c.2696C>A ENSP00000377747.4:p.Ala899Asp
ENST00000625463.1:c.236C>A ENSP00000486391.1:p.Ala79Asp
ENST00000626874.2:c.2696C>A ENSP00000486629.1:p.Ala899Asp
ENST00000628118.1:n.475C>A
NM_001271.3:c.2696C>A NP_001262.3:p.Ala899Asp
NM_001271.4:c.2696C>A MANE Select NP_001262.3:p.Ala899Asp