Canonical Allele Identifier: CA2196348918
Community Standard Title: NM_001271.4(CHD2):c.340C= (p.Arg114=)
Gene: CHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92927289C= , CM000677.2:g.92927289C= GRCh38
NC_000015.9:g.93470519C= , CM000677.1:g.93470519C= GRCh37
NC_000015.8:g.91271523C= NCBI36
NG_012826.1:g.31969C=
NG_012826.2:g.31969C=

Transcript Alleles

HGVS Amino-acid Change
NM_001271.4:c.340C= MANE Select NP_001262.3:p.Arg114=
ENST00000394196.9:c.340C= MANE Select ENSP00000377747.4:p.Arg114=
NM_001042572.2:c.340C= NP_001036037.1:p.Arg114=
NM_001042572.3:c.340C= NP_001036037.1:p.Arg114=
NM_001271.3:c.340C= NP_001262.3:p.Arg114=
ENST00000394196.8:c.340C= ENSP00000377747.4:p.Arg114=
ENST00000420239.6:c.340C= ENSP00000406581.2:p.Arg114=
ENST00000420239.7:c.340C= ENSP00000406581.2:p.Arg114=
ENST00000625990.2:c.46C= ENSP00000485890.1:p.Arg16=
ENST00000625990.3:c.46C= ENSP00000485890.2:p.Arg16=
ENST00000626782.2:c.379C= ENSP00000486487.1:p.Arg127=
ENST00000626874.2:c.340C= ENSP00000486629.1:p.Arg114=
ENST00000628375.2:c.340C= ENSP00000487577.1:p.Arg114=
ENST00000629136.1:n.306C=
ENST00000629685.2:c.340C= ENSP00000486623.1:p.Arg114=
ENST00000630790.1:n.532C=
ENST00000635856.1:n.912C=
ENST00000637572.1:n.321C=
ENST00000700549.1:c.340C= ENSP00000515055.1:p.Arg114=
ENST00000700550.1:c.340C= ENSP00000515056.1:p.Arg114=
ENST00000700551.1:c.340C= ENSP00000515057.1:p.Arg114=
ENST00000700552.1:c.46C= ENSP00000515058.1:p.Arg16=