Canonical Allele Identifier: CA393893639
Gene: CHD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92978232A>G , CM000677.2:g.92978232A>G GRCh38
NC_000015.9:g.93521462A>G , CM000677.1:g.93521462A>G GRCh37
NC_000015.8:g.91322466A>G NCBI36
NG_012826.1:g.82912A>G
NG_012826.2:g.82912A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000625662.3:c.2085-2A>G
ENST00000628118.2:c.1610A>G
ENST00000700551.1:c.*1409-2A>G ENSP00000515057.1:n.*1409-2A>G
ENST00000394196.9:c.2578-2A>G MANE Select ENSP00000377747.4:n.2578-2A>G
ENST00000635856.1:n.3150-2A>G
ENST00000636306.1:n.138-2A>G
ENST00000636881.1:c.1949-2A>G
ENST00000637572.1:n.3322-2A>G
ENST00000394196.8:c.2578-2A>G ENSP00000377747.4:n.2578-2A>G
ENST00000625463.1:c.118-2A>G ENSP00000486391.1:n.118-2A>G
ENST00000626874.2:c.2578-2A>G ENSP00000486629.1:n.2578-2A>G
ENST00000628118.1:n.355A>G
NM_001271.3:c.2578-2A>G NP_001262.3:n.2578-2A>G
NM_001271.4:c.2578-2A>G MANE Select NP_001262.3:n.2578-2A>G
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