Canonical Allele Identifier: CA393893628

Gene: CHD2

Linked Data

• MyVariant Identifiers: chr15:g.93518179A>G (hg19) ; chr15:g.92974949A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92974949A>G , CM000677.2:g.92974949A>G	GRCh38
NC_000015.9:g.93518179A>G , CM000677.1:g.93518179A>G	GRCh37
NC_000015.8:g.91319183A>G	NCBI36
NG_012826.1:g.79629A>G
NG_012826.2:g.79629A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2083A>G
ENST00000628118.2:c.1524A>G
ENST00000700550.1:c.*570A>G	ENSP00000515056.1:n.*570A>G
ENST00000700551.1:c.*1407A>G	ENSP00000515057.1:n.*1407A>G
ENST00000394196.9:c.2576A>G MANE Select	ENSP00000377747.4:p.Glu859Gly
ENST00000635856.1:n.3148A>G
ENST00000636306.1:n.136A>G
ENST00000636881.1:c.1947A>G
ENST00000637572.1:n.3320A>G
ENST00000394196.8:c.2576A>G	ENSP00000377747.4:p.Glu859Gly
ENST00000625463.1:c.116A>G	ENSP00000486391.1:p.Glu39Gly
ENST00000626874.2:c.2576A>G	ENSP00000486629.1:p.Glu859Gly
ENST00000628118.1:n.269A>G
NM_001271.3:c.2576A>G	NP_001262.3:p.Glu859Gly
NM_001271.4:c.2576A>G MANE Select	NP_001262.3:p.Glu859Gly