Canonical Allele Identifier: CA393893704

Gene: CHD2

Linked Data

• MyVariant Identifiers: chr15:g.93521491G>A (hg19) ; chr15:g.92978261G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978261G>A , CM000677.2:g.92978261G>A	GRCh38
NC_000015.9:g.93521491G>A , CM000677.1:g.93521491G>A	GRCh37
NC_000015.8:g.91322495G>A	NCBI36
NG_012826.1:g.82941G>A
NG_012826.2:g.82941G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2112G>A
ENST00000628118.2:c.1639G>A
ENST00000700551.1:c.*1436G>A	ENSP00000515057.1:n.*1436G>A
ENST00000394196.9:c.2605G>A MANE Select	ENSP00000377747.4:p.Ala869Thr
ENST00000635856.1:n.3177G>A
ENST00000636306.1:n.165G>A
ENST00000636881.1:c.1976G>A
ENST00000637572.1:n.3349G>A
ENST00000394196.8:c.2605G>A	ENSP00000377747.4:p.Ala869Thr
ENST00000625463.1:c.145G>A	ENSP00000486391.1:p.Ala49Thr
ENST00000626874.2:c.2605G>A	ENSP00000486629.1:p.Ala869Thr
ENST00000628118.1:n.384G>A
NM_001271.3:c.2605G>A	NP_001262.3:p.Ala869Thr
NM_001271.4:c.2605G>A MANE Select	NP_001262.3:p.Ala869Thr