Canonical Allele Identifier: CA393893764
Gene: CHD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92978289C>G , CM000677.2:g.92978289C>G GRCh38
NC_000015.9:g.93521519C>G , CM000677.1:g.93521519C>G GRCh37
NC_000015.8:g.91322523C>G NCBI36
NG_012826.1:g.82969C>G
NG_012826.2:g.82969C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000625662.3:c.2140C>G
ENST00000628118.2:c.1667C>G
ENST00000700551.1:c.*1464C>G ENSP00000515057.1:n.*1464C>G
ENST00000394196.9:c.2633C>G MANE Select ENSP00000377747.4:p.Ser878Ter
ENST00000635856.1:n.3205C>G
ENST00000636306.1:n.193C>G
ENST00000636881.1:c.2004C>G
ENST00000637572.1:n.3377C>G
ENST00000394196.8:c.2633C>G ENSP00000377747.4:p.Ser878Ter
ENST00000625463.1:c.173C>G ENSP00000486391.1:p.Ser58Ter
ENST00000626874.2:c.2633C>G ENSP00000486629.1:p.Ser878Ter
ENST00000628118.1:n.412C>G
NM_001271.3:c.2633C>G NP_001262.3:p.Ser878Ter
NM_001271.4:c.2633C>G MANE Select NP_001262.3:p.Ser878Ter