Canonical Allele Identifier: CA492499624

Gene: CHD2

Linked Data

• MyVariant Identifiers: chr15:g.93518177T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92974947T>G , CM000677.2:g.92974947T>G	GRCh38
NC_000015.9:g.93518177T>G , CM000677.1:g.93518177T>G	GRCh37
NC_000015.8:g.91319181T>G	NCBI36
NG_012826.1:g.79627T>G
NG_012826.2:g.79627T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2081T>G
ENST00000628118.2:c.1522T>G
ENST00000700550.1:c.*568T>G	ENSP00000515056.1:n.*568T>G
ENST00000700551.1:c.*1405T>G	ENSP00000515057.1:n.*1405T>G
ENST00000394196.9:c.2574T>G MANE Select	ENSP00000377747.4:p.Ser858=
ENST00000635856.1:n.3146T>G
ENST00000636306.1:n.134T>G
ENST00000636881.1:c.1945T>G
ENST00000637572.1:n.3318T>G
ENST00000394196.8:c.2574T>G	ENSP00000377747.4:p.Ser858=
ENST00000625463.1:c.114T>G	ENSP00000486391.1:p.Ser38=
ENST00000626874.2:c.2574T>G	ENSP00000486629.1:p.Ser858=
ENST00000628118.1:n.267T>G
NM_001271.3:c.2574T>G	NP_001262.3:p.Ser858=
NM_001271.4:c.2574T>G MANE Select	NP_001262.3:p.Ser858=