Canonical Allele Identifier: CA7747449

Gene: CHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92924416C>T , CM000677.2:g.92924416C>T	GRCh38
NC_000015.9:g.93467646C>T , CM000677.1:g.93467646C>T	GRCh37
NC_000015.8:g.91268650C>T	NCBI36
NG_012826.1:g.29096C>T
NG_012826.2:g.29096C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001271.4:c.158C>T MANE Select	NP_001262.3:p.Ser53Leu
ENST00000394196.9:c.158C>T MANE Select	ENSP00000377747.4:p.Ser53Leu
NM_001042572.2:c.158C>T	NP_001036037.1:p.Ser53Leu
NM_001042572.3:c.158C>T	NP_001036037.1:p.Ser53Leu
NM_001271.3:c.158C>T	NP_001262.3:p.Ser53Leu
ENST00000394196.8:c.158C>T	ENSP00000377747.4:p.Ser53Leu
ENST00000420239.6:c.158C>T	ENSP00000406581.2:p.Ser53Leu
ENST00000420239.7:c.158C>T	ENSP00000406581.2:p.Ser53Leu
ENST00000625990.2:c.-137C>T	ENSP00000485890.1:n.-137C>T
ENST00000625990.3:c.-137C>T	ENSP00000485890.2:n.-137C>T
ENST00000626782.2:c.197C>T	ENSP00000486487.1:p.Ser66Leu
ENST00000626874.2:c.158C>T	ENSP00000486629.1:p.Ser53Leu
ENST00000628375.2:c.158C>T	ENSP00000487577.1:p.Ser53Leu
ENST00000629136.1:n.124C>T
ENST00000629685.2:c.158C>T	ENSP00000486623.1:p.Ser53Leu
ENST00000630790.1:n.350C>T
ENST00000635856.1:n.730C>T
ENST00000637572.1:n.139C>T
ENST00000700549.1:c.158C>T	ENSP00000515055.1:p.Ser53Leu
ENST00000700550.1:c.158C>T	ENSP00000515056.1:p.Ser53Leu
ENST00000700551.1:c.158C>T	ENSP00000515057.1:p.Ser53Leu
ENST00000700552.1:c.-137C>T	ENSP00000515058.1:n.-137C>T