Canonical Allele Identifier: CA972872477

Gene: CHD2

Linked Data

• dbSNP Id: rs2053888106
• gnomAD v4: 15-92974954-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92974954T>C , CM000677.2:g.92974954T>C	GRCh38
NC_000015.9:g.93518184T>C , CM000677.1:g.93518184T>C	GRCh37
NC_000015.8:g.91319188T>C	NCBI36
NG_012826.1:g.79634T>C
NG_012826.2:g.79634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2084+4T>C
ENST00000628118.2:c.1525+4T>C
ENST00000700550.1:c.*575T>C	ENSP00000515056.1:n.*575T>C
ENST00000700551.1:c.*1408+4T>C	ENSP00000515057.1:n.*1408+4T>C
ENST00000394196.9:c.2577+4T>C MANE Select	ENSP00000377747.4:n.2577+4T>C
ENST00000635856.1:n.3149+4T>C
ENST00000636306.1:n.137+4T>C
ENST00000636881.1:c.1948+4T>C
ENST00000637572.1:n.3321+4T>C
ENST00000394196.8:c.2577+4T>C	ENSP00000377747.4:n.2577+4T>C
ENST00000625463.1:c.117+4T>C	ENSP00000486391.1:n.117+4T>C
ENST00000626874.2:c.2577+4T>C	ENSP00000486629.1:n.2577+4T>C
ENST00000628118.1:n.270+4T>C
NM_001271.3:c.2577+4T>C	NP_001262.3:n.2577+4T>C
NM_001271.4:c.2577+4T>C MANE Select	NP_001262.3:n.2577+4T>C