Canonical Allele Identifier: CA393893827
Gene: CHD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92978318G>C , CM000677.2:g.92978318G>C GRCh38
NC_000015.9:g.93521548G>C , CM000677.1:g.93521548G>C GRCh37
NC_000015.8:g.91322552G>C NCBI36
NG_012826.1:g.82998G>C
NG_012826.2:g.82998G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000625662.3:c.2169G>C
ENST00000628118.2:c.1696G>C
ENST00000700551.1:c.*1493G>C ENSP00000515057.1:n.*1493G>C
ENST00000394196.9:c.2662G>C MANE Select ENSP00000377747.4:p.Asp888His
ENST00000635856.1:n.3234G>C
ENST00000636306.1:n.222G>C
ENST00000636881.1:c.2033G>C
ENST00000637572.1:n.3406G>C
ENST00000394196.8:c.2662G>C ENSP00000377747.4:p.Asp888His
ENST00000625463.1:c.202G>C ENSP00000486391.1:p.Asp68His
ENST00000626874.2:c.2662G>C ENSP00000486629.1:p.Asp888His
ENST00000628118.1:n.441G>C
NM_001271.3:c.2662G>C NP_001262.3:p.Asp888His
NM_001271.4:c.2662G>C MANE Select NP_001262.3:p.Asp888His