Canonical Allele Identifier: CA393893712

Gene: CHD2

Linked Data

• MyVariant Identifiers: chr15:g.93521494G>T (hg19) ; chr15:g.92978264G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978264G>T , CM000677.2:g.92978264G>T	GRCh38
NC_000015.9:g.93521494G>T , CM000677.1:g.93521494G>T	GRCh37
NC_000015.8:g.91322498G>T	NCBI36
NG_012826.1:g.82944G>T
NG_012826.2:g.82944G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2115G>T
ENST00000628118.2:c.1642G>T
ENST00000700551.1:c.*1439G>T	ENSP00000515057.1:n.*1439G>T
ENST00000394196.9:c.2608G>T MANE Select	ENSP00000377747.4:p.Gly870Cys
ENST00000635856.1:n.3180G>T
ENST00000636306.1:n.168G>T
ENST00000636881.1:c.1979G>T
ENST00000637572.1:n.3352G>T
ENST00000394196.8:c.2608G>T	ENSP00000377747.4:p.Gly870Cys
ENST00000625463.1:c.148G>T	ENSP00000486391.1:p.Gly50Cys
ENST00000626874.2:c.2608G>T	ENSP00000486629.1:p.Gly870Cys
ENST00000628118.1:n.387G>T
NM_001271.3:c.2608G>T	NP_001262.3:p.Gly870Cys
NM_001271.4:c.2608G>T MANE Select	NP_001262.3:p.Gly870Cys