Canonical Allele Identifier: CA393893698
Gene: CHD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92978258A>G , CM000677.2:g.92978258A>G GRCh38
NC_000015.9:g.93521488A>G , CM000677.1:g.93521488A>G GRCh37
NC_000015.8:g.91322492A>G NCBI36
NG_012826.1:g.82938A>G
NG_012826.2:g.82938A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000625662.3:c.2109A>G
ENST00000628118.2:c.1636A>G
ENST00000700551.1:c.*1433A>G ENSP00000515057.1:n.*1433A>G
ENST00000394196.9:c.2602A>G MANE Select ENSP00000377747.4:p.Arg868Gly
ENST00000635856.1:n.3174A>G
ENST00000636306.1:n.162A>G
ENST00000636881.1:c.1973A>G
ENST00000637572.1:n.3346A>G
ENST00000394196.8:c.2602A>G ENSP00000377747.4:p.Arg868Gly
ENST00000625463.1:c.142A>G ENSP00000486391.1:p.Arg48Gly
ENST00000626874.2:c.2602A>G ENSP00000486629.1:p.Arg868Gly
ENST00000628118.1:n.381A>G
NM_001271.3:c.2602A>G NP_001262.3:p.Arg868Gly
NM_001271.4:c.2602A>G MANE Select NP_001262.3:p.Arg868Gly