Canonical Allele Identifier: CA16042920
Gene: CHD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92949036C>T , CM000677.2:g.92949036C>T GRCh38
NC_000015.9:g.93492266C>T , CM000677.1:g.93492266C>T GRCh37
NC_000015.8:g.91293270C>T NCBI36
NG_012826.1:g.53716C>T
NG_012826.2:g.53716C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000625662.3:c.969C>T
ENST00000628118.2:c.410C>T
ENST00000700550.1:c.1462C>T ENSP00000515056.1:p.Gln488Ter
ENST00000700551.1:c.*293C>T ENSP00000515057.1:n.*293C>T
ENST00000394196.9:c.1462C>T MANE Select ENSP00000377747.4:p.Gln488Ter
ENST00000420239.7:c.1462C>T ENSP00000406581.2:p.Gln488Ter
ENST00000625990.3:c.1168C>T ENSP00000485890.2:p.Gln390Ter
ENST00000635856.1:n.2034C>T
ENST00000636881.1:c.833C>T
ENST00000637572.1:n.1443C>T
ENST00000637613.1:c.794C>T ENSP00000489976.1:n.794C>T
ENST00000394196.8:c.1462C>T ENSP00000377747.4:p.Gln488Ter
ENST00000420239.6:c.1462C>T ENSP00000406581.2:p.Gln488Ter
ENST00000626782.2:c.1501C>T ENSP00000486487.1:p.Gln501Ter
ENST00000626874.2:c.1462C>T ENSP00000486629.1:p.Gln488Ter
ENST00000630016.1:c.414C>T
ENST00000630790.1:n.4305C>T
NM_001042572.2:c.1462C>T NP_001036037.1:p.Gln488Ter
NM_001271.3:c.1462C>T NP_001262.3:p.Gln488Ter
NM_001271.4:c.1462C>T MANE Select NP_001262.3:p.Gln488Ter
NM_001042572.3:c.1462C>T NP_001036037.1:p.Gln488Ter
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