Canonical Allele Identifier: CA393893882

Gene: CHD2

Linked Data

• MyVariant Identifiers: chr15:g.93521569T>G (hg19) ; chr15:g.92978339T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978339T>G , CM000677.2:g.92978339T>G	GRCh38
NC_000015.9:g.93521569T>G , CM000677.1:g.93521569T>G	GRCh37
NC_000015.8:g.91322573T>G	NCBI36
NG_012826.1:g.83019T>G
NG_012826.2:g.83019T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2190T>G
ENST00000628118.2:c.1717T>G
ENST00000700551.1:c.*1514T>G	ENSP00000515057.1:n.*1514T>G
ENST00000394196.9:c.2683T>G MANE Select	ENSP00000377747.4:p.Leu895Val
ENST00000635856.1:n.3255T>G
ENST00000636306.1:n.243T>G
ENST00000636881.1:c.2054T>G
ENST00000637572.1:n.3427T>G
ENST00000394196.8:c.2683T>G	ENSP00000377747.4:p.Leu895Val
ENST00000625463.1:c.223T>G	ENSP00000486391.1:p.Leu75Val
ENST00000626874.2:c.2683T>G	ENSP00000486629.1:p.Leu895Val
ENST00000628118.1:n.462T>G
NM_001271.3:c.2683T>G	NP_001262.3:p.Leu895Val
NM_001271.4:c.2683T>G MANE Select	NP_001262.3:p.Leu895Val