Canonical Allele Identifier: CA393896065

Gene: CHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92991489T>G , CM000677.2:g.92991489T>G	GRCh38
NC_000015.9:g.93534719T>G , CM000677.1:g.93534719T>G	GRCh37
NC_000015.8:g.91335723T>G	NCBI36
NG_012826.1:g.96169T>G
NG_012826.2:g.96169T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001271.4:c.3427T>G MANE Select	NP_001262.3:p.Tyr1143Asp
ENST00000394196.9:c.3427T>G MANE Select	ENSP00000377747.4:p.Tyr1143Asp
NM_001271.3:c.3427T>G	NP_001262.3:p.Tyr1143Asp
ENST00000394196.8:c.3427T>G	ENSP00000377747.4:p.Tyr1143Asp
ENST00000625662.3:c.2934T>G
ENST00000626874.2:c.3427T>G	ENSP00000486629.1:p.Tyr1143Asp
ENST00000628118.2:c.2461T>G
ENST00000635856.1:n.3999T>G
ENST00000636306.1:n.987T>G
ENST00000636881.1:c.2868+59T>G
ENST00000637572.1:n.4171T>G
ENST00000637789.1:c.232T>G	ENSP00000489767.1:p.Tyr78Asp