Canonical Allele Identifier: CA492499631

Gene: CHD2

Linked Data

• MyVariant Identifiers: chr15:g.93521476C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978246C>T , CM000677.2:g.92978246C>T	GRCh38
NC_000015.9:g.93521476C>T , CM000677.1:g.93521476C>T	GRCh37
NC_000015.8:g.91322480C>T	NCBI36
NG_012826.1:g.82926C>T
NG_012826.2:g.82926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2097C>T
ENST00000628118.2:c.1624C>T
ENST00000700551.1:c.*1421C>T	ENSP00000515057.1:n.*1421C>T
ENST00000394196.9:c.2590C>T MANE Select	ENSP00000377747.4:p.Leu864=
ENST00000635856.1:n.3162C>T
ENST00000636306.1:n.150C>T
ENST00000636881.1:c.1961C>T
ENST00000637572.1:n.3334C>T
ENST00000394196.8:c.2590C>T	ENSP00000377747.4:p.Leu864=
ENST00000625463.1:c.130C>T	ENSP00000486391.1:p.Leu44=
ENST00000626874.2:c.2590C>T	ENSP00000486629.1:p.Leu864=
ENST00000628118.1:n.369C>T
NM_001271.3:c.2590C>T	NP_001262.3:p.Leu864=
NM_001271.4:c.2590C>T MANE Select	NP_001262.3:p.Leu864=