Canonical Allele Identifier: CA2196359842

Gene: CHD2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001271.4:c.1462C= MANE Select	NP_001262.3:p.Gln488=
ENST00000394196.9:c.1462C= MANE Select	ENSP00000377747.4:p.Gln488=
NM_001042572.2:c.1462C=	NP_001036037.1:p.Gln488=
NM_001042572.3:c.1462C=	NP_001036037.1:p.Gln488=
NM_001271.3:c.1462C=	NP_001262.3:p.Gln488=
ENST00000394196.8:c.1462C=	ENSP00000377747.4:p.Gln488=
ENST00000420239.6:c.1462C=	ENSP00000406581.2:p.Gln488=
ENST00000420239.7:c.1462C=	ENSP00000406581.2:p.Gln488=
ENST00000625662.3:c.969C=
ENST00000625990.3:c.1168C=	ENSP00000485890.2:p.Gln390=
ENST00000626782.2:c.1501C=	ENSP00000486487.1:p.Gln501=
ENST00000626874.2:c.1462C=	ENSP00000486629.1:p.Gln488=
ENST00000628118.2:c.410C=
ENST00000630016.1:c.414C=
ENST00000630790.1:n.4305C=
ENST00000635856.1:n.2034C=
ENST00000636881.1:c.833C=
ENST00000637572.1:n.1443C=
ENST00000637613.1:c.794C=	ENSP00000489976.1:n.794C=
ENST00000700550.1:c.1462C=	ENSP00000515056.1:p.Gln488=
ENST00000700551.1:c.*293C=	ENSP00000515057.1:n.*293C=