Canonical Allele Identifier: CA393893907

Gene: CHD2

Linked Data

• MyVariant Identifiers: chr15:g.93521579A>T (hg19) ; chr15:g.92978349A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978349A>T , CM000677.2:g.92978349A>T	GRCh38
NC_000015.9:g.93521579A>T , CM000677.1:g.93521579A>T	GRCh37
NC_000015.8:g.91322583A>T	NCBI36
NG_012826.1:g.83029A>T
NG_012826.2:g.83029A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2200A>T
ENST00000628118.2:c.1727A>T
ENST00000700551.1:c.*1524A>T	ENSP00000515057.1:n.*1524A>T
ENST00000394196.9:c.2693A>T MANE Select	ENSP00000377747.4:p.Gln898Leu
ENST00000635856.1:n.3265A>T
ENST00000636306.1:n.253A>T
ENST00000636881.1:c.2064A>T
ENST00000637572.1:n.3437A>T
ENST00000394196.8:c.2693A>T	ENSP00000377747.4:p.Gln898Leu
ENST00000625463.1:c.233A>T	ENSP00000486391.1:p.Gln78Leu
ENST00000626874.2:c.2693A>T	ENSP00000486629.1:p.Gln898Leu
ENST00000628118.1:n.472A>T
NM_001271.3:c.2693A>T	NP_001262.3:p.Gln898Leu
NM_001271.4:c.2693A>T MANE Select	NP_001262.3:p.Gln898Leu