Canonical Allele Identifier: CA393893900

Gene: CHD2

Linked Data

• MyVariant Identifiers: chr15:g.93521576C>G (hg19) ; chr15:g.92978346C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978346C>G , CM000677.2:g.92978346C>G	GRCh38
NC_000015.9:g.93521576C>G , CM000677.1:g.93521576C>G	GRCh37
NC_000015.8:g.91322580C>G	NCBI36
NG_012826.1:g.83026C>G
NG_012826.2:g.83026C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2197C>G
ENST00000628118.2:c.1724C>G
ENST00000700551.1:c.*1521C>G	ENSP00000515057.1:n.*1521C>G
ENST00000394196.9:c.2690C>G MANE Select	ENSP00000377747.4:p.Ala897Gly
ENST00000635856.1:n.3262C>G
ENST00000636306.1:n.250C>G
ENST00000636881.1:c.2061C>G
ENST00000637572.1:n.3434C>G
ENST00000394196.8:c.2690C>G	ENSP00000377747.4:p.Ala897Gly
ENST00000625463.1:c.230C>G	ENSP00000486391.1:p.Ala77Gly
ENST00000626874.2:c.2690C>G	ENSP00000486629.1:p.Ala897Gly
ENST00000628118.1:n.469C>G
NM_001271.3:c.2690C>G	NP_001262.3:p.Ala897Gly
NM_001271.4:c.2690C>G MANE Select	NP_001262.3:p.Ala897Gly