Canonical Allele Identifier: CA393893802
Gene: CHD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92978307T>G , CM000677.2:g.92978307T>G GRCh38
NC_000015.9:g.93521537T>G , CM000677.1:g.93521537T>G GRCh37
NC_000015.8:g.91322541T>G NCBI36
NG_012826.1:g.82987T>G
NG_012826.2:g.82987T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000625662.3:c.2158T>G
ENST00000628118.2:c.1685T>G
ENST00000700551.1:c.*1482T>G ENSP00000515057.1:n.*1482T>G
ENST00000394196.9:c.2651T>G MANE Select ENSP00000377747.4:p.Ile884Ser
ENST00000635856.1:n.3223T>G
ENST00000636306.1:n.211T>G
ENST00000636881.1:c.2022T>G
ENST00000637572.1:n.3395T>G
ENST00000394196.8:c.2651T>G ENSP00000377747.4:p.Ile884Ser
ENST00000625463.1:c.191T>G ENSP00000486391.1:p.Ile64Ser
ENST00000626874.2:c.2651T>G ENSP00000486629.1:p.Ile884Ser
ENST00000628118.1:n.430T>G
NM_001271.3:c.2651T>G NP_001262.3:p.Ile884Ser
NM_001271.4:c.2651T>G MANE Select NP_001262.3:p.Ile884Ser