Canonical Allele Identifier: CA7747393

Gene: CHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92901267G>A , CM000677.2:g.92901267G>A	GRCh38
NC_000015.9:g.93444497G>A , CM000677.1:g.93444497G>A	GRCh37
NC_000015.8:g.91245501G>A	NCBI36
NG_012826.1:g.5947G>A
NG_012826.2:g.5947G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001271.4:c.30G>A MANE Select	NP_001262.3:p.Glu10=
ENST00000394196.9:c.30G>A MANE Select	ENSP00000377747.4:p.Glu10=
NM_001042572.2:c.30G>A	NP_001036037.1:p.Glu10=
NM_001042572.3:c.30G>A	NP_001036037.1:p.Glu10=
NM_001271.3:c.30G>A	NP_001262.3:p.Glu10=
ENST00000394196.8:c.30G>A	ENSP00000377747.4:p.Glu10=
ENST00000420239.6:c.30G>A	ENSP00000406581.2:p.Glu10=
ENST00000420239.7:c.30G>A	ENSP00000406581.2:p.Glu10=
ENST00000625990.2:c.-233+443G>A	ENSP00000485890.1:n.-233+443G>A
ENST00000625990.3:c.-233+443G>A	ENSP00000485890.2:n.-233+443G>A
ENST00000626874.2:c.30G>A	ENSP00000486629.1:p.Glu10=
ENST00000627622.1:c.30G>A	ENSP00000486926.1:p.Glu10=
ENST00000628375.2:c.30G>A	ENSP00000487577.1:p.Glu10=
ENST00000629346.2:c.30G>A	ENSP00000487299.1:p.Glu10=
ENST00000629685.2:c.30G>A	ENSP00000486623.1:p.Glu10=
ENST00000630790.1:n.222G>A
ENST00000635856.1:n.602G>A
ENST00000700549.1:c.30G>A	ENSP00000515055.1:p.Glu10=
ENST00000700550.1:c.30G>A	ENSP00000515056.1:p.Glu10=
ENST00000700551.1:c.30G>A	ENSP00000515057.1:p.Glu10=
ENST00000700552.1:c.-233+443G>A	ENSP00000515058.1:n.-233+443G>A