Canonical Allele Identifier: CA16043877
Gene: CHD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374747
dbSNP Id: rs1057519228

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92953573G>A , CM000677.2:g.92953573G>A GRCh38
NC_000015.9:g.93496803G>A , CM000677.1:g.93496803G>A GRCh37
NC_000015.8:g.91297807G>A NCBI36
NG_012826.1:g.58253G>A
NG_012826.2:g.58253G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000625662.3:c.1226G>A
ENST00000628118.2:c.667G>A
ENST00000700550.1:c.1719G>A ENSP00000515056.1:p.Thr573=
ENST00000700551.1:c.*550G>A ENSP00000515057.1:n.*550G>A
ENST00000394196.9:c.1719G>A MANE Select ENSP00000377747.4:p.Thr573=
ENST00000625990.3:c.1425G>A ENSP00000485890.2:p.Thr475=
ENST00000635856.1:n.2291G>A
ENST00000636881.1:c.1090G>A
ENST00000637572.1:n.1700G>A
ENST00000394196.8:c.1719G>A ENSP00000377747.4:p.Thr573=
ENST00000626874.2:c.1719G>A ENSP00000486629.1:p.Thr573=
ENST00000628181.1:n.247G>A
NM_001271.3:c.1719G>A NP_001262.3:p.Thr573=
NM_001271.4:c.1719G>A MANE Select NP_001262.3:p.Thr573=