Canonical Allele Identifier: CA393893677

Gene: CHD2

Linked Data

• MyVariant Identifiers: chr15:g.93521477T>A (hg19) ; chr15:g.92978247T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978247T>A , CM000677.2:g.92978247T>A	GRCh38
NC_000015.9:g.93521477T>A , CM000677.1:g.93521477T>A	GRCh37
NC_000015.8:g.91322481T>A	NCBI36
NG_012826.1:g.82927T>A
NG_012826.2:g.82927T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2098T>A
ENST00000628118.2:c.1625T>A
ENST00000700551.1:c.*1422T>A	ENSP00000515057.1:n.*1422T>A
ENST00000394196.9:c.2591T>A MANE Select	ENSP00000377747.4:p.Leu864Gln
ENST00000635856.1:n.3163T>A
ENST00000636306.1:n.151T>A
ENST00000636881.1:c.1962T>A
ENST00000637572.1:n.3335T>A
ENST00000394196.8:c.2591T>A	ENSP00000377747.4:p.Leu864Gln
ENST00000625463.1:c.131T>A	ENSP00000486391.1:p.Leu44Gln
ENST00000626874.2:c.2591T>A	ENSP00000486629.1:p.Leu864Gln
ENST00000628118.1:n.370T>A
NM_001271.3:c.2591T>A	NP_001262.3:p.Leu864Gln
NM_001271.4:c.2591T>A MANE Select	NP_001262.3:p.Leu864Gln