Canonical Allele Identifier: CA2575841306
Gene: CHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92978191T>G , CM000677.2:g.92978191T>G GRCh38
NC_000015.9:g.93521421T>G , CM000677.1:g.93521421T>G GRCh37
NC_000015.8:g.91322425T>G NCBI36
NG_012826.1:g.82871T>G
NG_012826.2:g.82871T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000625662.3:c.2085-43T>G
ENST00000628118.2:c.1569T>G
ENST00000700551.1:c.*1409-43T>G ENSP00000515057.1:n.*1409-43T>G
ENST00000394196.9:c.2578-43T>G MANE Select ENSP00000377747.4:n.2578-43T>G
ENST00000635856.1:n.3150-43T>G
ENST00000636306.1:n.138-43T>G
ENST00000636881.1:c.1949-43T>G
ENST00000637572.1:n.3322-43T>G
ENST00000394196.8:c.2578-43T>G ENSP00000377747.4:n.2578-43T>G
ENST00000625463.1:c.118-43T>G ENSP00000486391.1:n.118-43T>G
ENST00000626874.2:c.2578-43T>G ENSP00000486629.1:n.2578-43T>G
ENST00000628118.1:n.314T>G
NM_001271.3:c.2578-43T>G NP_001262.3:n.2578-43T>G
NM_001271.4:c.2578-43T>G MANE Select NP_001262.3:n.2578-43T>G