Canonical Allele Identifier: CA393893931

Gene: CHD2

Linked Data

• ClinVar Variation Id: 976063
• ClinVar RCV Id: RCV001253242
• dbSNP Id: rs2053935622
• MyVariant Identifiers: chr15:g.93521591A>G (hg19) ; chr15:g.92978361A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978361A>G , CM000677.2:g.92978361A>G	GRCh38
NC_000015.9:g.93521591A>G , CM000677.1:g.93521591A>G	GRCh37
NC_000015.8:g.91322595A>G	NCBI36
NG_012826.1:g.83041A>G
NG_012826.2:g.83041A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2212A>G
ENST00000628118.2:c.1739A>G
ENST00000700551.1:c.*1536A>G	ENSP00000515057.1:n.*1536A>G
ENST00000394196.9:c.2705A>G MANE Select	ENSP00000377747.4:p.His902Arg
ENST00000635856.1:n.3277A>G
ENST00000636306.1:n.265A>G
ENST00000636881.1:c.2076A>G
ENST00000637572.1:n.3449A>G
ENST00000394196.8:c.2705A>G	ENSP00000377747.4:p.His902Arg
ENST00000625463.1:c.245A>G	ENSP00000486391.1:p.His82Arg
ENST00000626874.2:c.2705A>G	ENSP00000486629.1:p.His902Arg
ENST00000628118.1:n.484A>G
NM_001271.3:c.2705A>G	NP_001262.3:p.His902Arg
NM_001271.4:c.2705A>G MANE Select	NP_001262.3:p.His902Arg