Canonical Allele Identifier: CA393893689

Gene: CHD2

Linked Data

• ClinVar Variation Id: 864750
• ClinVar RCV Id: RCV001072011
• dbSNP Id: rs1085308000
• MyVariant Identifiers: chr15:g.93521483C>A (hg19) ; chr15:g.92978253C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978253C>A , CM000677.2:g.92978253C>A	GRCh38
NC_000015.9:g.93521483C>A , CM000677.1:g.93521483C>A	GRCh37
NC_000015.8:g.91322487C>A	NCBI36
NG_012826.1:g.82933C>A
NG_012826.2:g.82933C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2104C>A
ENST00000628118.2:c.1631C>A
ENST00000700551.1:c.*1428C>A	ENSP00000515057.1:n.*1428C>A
ENST00000394196.9:c.2597C>A MANE Select	ENSP00000377747.4:p.Ser866Ter
ENST00000635856.1:n.3169C>A
ENST00000636306.1:n.157C>A
ENST00000636881.1:c.1968C>A
ENST00000637572.1:n.3341C>A
ENST00000394196.8:c.2597C>A	ENSP00000377747.4:p.Ser866Ter
ENST00000625463.1:c.137C>A	ENSP00000486391.1:p.Ser46Ter
ENST00000626874.2:c.2597C>A	ENSP00000486629.1:p.Ser866Ter
ENST00000628118.1:n.376C>A
NM_001271.3:c.2597C>A	NP_001262.3:p.Ser866Ter
NM_001271.4:c.2597C>A MANE Select	NP_001262.3:p.Ser866Ter