Canonical Allele Identifier: CA393893690

Gene: CHD2

Linked Data

• ClinVar Variation Id: 427169
• ClinVar RCV Id: RCV003741191
• dbSNP Id: rs1085308000
• MyVariant Identifiers: chr15:g.93521483C>T (hg19) ; chr15:g.92978253C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2104C>T
ENST00000628118.2:c.1631C>T
ENST00000700551.1:c.*1428C>T	ENSP00000515057.1:n.*1428C>T
ENST00000394196.9:c.2597C>T MANE Select	ENSP00000377747.4:p.Ser866Leu
ENST00000635856.1:n.3169C>T
ENST00000636306.1:n.157C>T
ENST00000636881.1:c.1968C>T
ENST00000637572.1:n.3341C>T
ENST00000394196.8:c.2597C>T	ENSP00000377747.4:p.Ser866Leu
ENST00000625463.1:c.137C>T	ENSP00000486391.1:p.Ser46Leu
ENST00000626874.2:c.2597C>T	ENSP00000486629.1:p.Ser866Leu
ENST00000628118.1:n.376C>T
NM_001271.3:c.2597C>T	NP_001262.3:p.Ser866Leu
NM_001271.4:c.2597C>T MANE Select	NP_001262.3:p.Ser866Leu