Canonical Allele Identifier: CA492687273

Gene: CHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92924429T>G , CM000677.2:g.92924429T>G	GRCh38
NC_000015.9:g.93467659T>G , CM000677.1:g.93467659T>G	GRCh37
NC_000015.8:g.91268663T>G	NCBI36
NG_012826.1:g.29109T>G
NG_012826.2:g.29109T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001271.4:c.171T>G MANE Select	NP_001262.3:p.Ser57=
ENST00000394196.9:c.171T>G MANE Select	ENSP00000377747.4:p.Ser57=
NM_001042572.2:c.171T>G	NP_001036037.1:p.Ser57=
NM_001042572.3:c.171T>G	NP_001036037.1:p.Ser57=
NM_001271.3:c.171T>G	NP_001262.3:p.Ser57=
ENST00000394196.8:c.171T>G	ENSP00000377747.4:p.Ser57=
ENST00000420239.6:c.171T>G	ENSP00000406581.2:p.Ser57=
ENST00000420239.7:c.171T>G	ENSP00000406581.2:p.Ser57=
ENST00000625990.2:c.-124T>G	ENSP00000485890.1:n.-124T>G
ENST00000625990.3:c.-124T>G	ENSP00000485890.2:n.-124T>G
ENST00000626782.2:c.210T>G	ENSP00000486487.1:p.Ser70=
ENST00000626874.2:c.171T>G	ENSP00000486629.1:p.Ser57=
ENST00000628375.2:c.171T>G	ENSP00000487577.1:p.Ser57=
ENST00000629136.1:n.137T>G
ENST00000629685.2:c.171T>G	ENSP00000486623.1:p.Ser57=
ENST00000630790.1:n.363T>G
ENST00000635856.1:n.743T>G
ENST00000637572.1:n.152T>G
ENST00000700549.1:c.171T>G	ENSP00000515055.1:p.Ser57=
ENST00000700550.1:c.171T>G	ENSP00000515056.1:p.Ser57=
ENST00000700551.1:c.171T>G	ENSP00000515057.1:p.Ser57=
ENST00000700552.1:c.-124T>G	ENSP00000515058.1:n.-124T>G