Canonical Allele Identifier: CA7748029

Gene: CHD2

Linked Data

• dbSNP Id: rs573689290
• ExAC: 15:93521416 G / C
• gnomAD v2: 15-93521416-G-C
• gnomAD v3: 15-92978186-G-C
• gnomAD v4: 15-92978186-G-C
• MyVariant Identifiers: chr15:g.93521416G>C (hg19) ; chr15:g.92978186G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978186G>C , CM000677.2:g.92978186G>C	GRCh38
NC_000015.9:g.93521416G>C , CM000677.1:g.93521416G>C	GRCh37
NC_000015.8:g.91322420G>C	NCBI36
NG_012826.1:g.82866G>C
NG_012826.2:g.82866G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2085-48G>C
ENST00000628118.2:c.1564G>C
ENST00000700551.1:c.*1409-48G>C	ENSP00000515057.1:n.*1409-48G>C
ENST00000394196.9:c.2578-48G>C MANE Select	ENSP00000377747.4:n.2578-48G>C
ENST00000635856.1:n.3150-48G>C
ENST00000636306.1:n.138-48G>C
ENST00000636881.1:c.1949-48G>C
ENST00000637572.1:n.3322-48G>C
ENST00000394196.8:c.2578-48G>C	ENSP00000377747.4:n.2578-48G>C
ENST00000625463.1:c.118-48G>C	ENSP00000486391.1:n.118-48G>C
ENST00000626874.2:c.2578-48G>C	ENSP00000486629.1:n.2578-48G>C
ENST00000628118.1:n.309G>C
NM_001271.3:c.2578-48G>C	NP_001262.3:n.2578-48G>C
NM_001271.4:c.2578-48G>C MANE Select	NP_001262.3:n.2578-48G>C