Canonical Allele Identifier: CA2196362024

Gene: CHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92953573G= , CM000677.2:g.92953573G=	GRCh38
NC_000015.9:g.93496803G= , CM000677.1:g.93496803G=	GRCh37
NC_000015.8:g.91297807G=	NCBI36
NG_012826.1:g.58253G=
NG_012826.2:g.58253G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001271.4:c.1719G= MANE Select	NP_001262.3:p.Thr573=
ENST00000394196.9:c.1719G= MANE Select	ENSP00000377747.4:p.Thr573=
NM_001271.3:c.1719G=	NP_001262.3:p.Thr573=
ENST00000394196.8:c.1719G=	ENSP00000377747.4:p.Thr573=
ENST00000625662.3:c.1226G=
ENST00000625990.3:c.1425G=	ENSP00000485890.2:p.Thr475=
ENST00000626874.2:c.1719G=	ENSP00000486629.1:p.Thr573=
ENST00000628118.2:c.667G=
ENST00000628181.1:n.247G=
ENST00000635856.1:n.2291G=
ENST00000636881.1:c.1090G=
ENST00000637572.1:n.1700G=
ENST00000700550.1:c.1719G=	ENSP00000515056.1:p.Thr573=
ENST00000700551.1:c.*550G=	ENSP00000515057.1:n.*550G=