Canonical Allele Identifier: CA2630474706

Gene: CHD2

Linked Data

• gnomAD v4: 15-92978196-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978196A>G , CM000677.2:g.92978196A>G	GRCh38
NC_000015.9:g.93521426A>G , CM000677.1:g.93521426A>G	GRCh37
NC_000015.8:g.91322430A>G	NCBI36
NG_012826.1:g.82876A>G
NG_012826.2:g.82876A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2085-38A>G
ENST00000628118.2:c.1574A>G
ENST00000700551.1:c.*1409-38A>G	ENSP00000515057.1:n.*1409-38A>G
ENST00000394196.9:c.2578-38A>G MANE Select	ENSP00000377747.4:n.2578-38A>G
ENST00000635856.1:n.3150-38A>G
ENST00000636306.1:n.138-38A>G
ENST00000636881.1:c.1949-38A>G
ENST00000637572.1:n.3322-38A>G
ENST00000394196.8:c.2578-38A>G	ENSP00000377747.4:n.2578-38A>G
ENST00000625463.1:c.118-38A>G	ENSP00000486391.1:n.118-38A>G
ENST00000626874.2:c.2578-38A>G	ENSP00000486629.1:n.2578-38A>G
ENST00000628118.1:n.319A>G
NM_001271.3:c.2578-38A>G	NP_001262.3:n.2578-38A>G
NM_001271.4:c.2578-38A>G MANE Select	NP_001262.3:n.2578-38A>G