Canonical Allele Identifier: CA2575841307
Gene: CHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92978192G>A , CM000677.2:g.92978192G>A GRCh38
NC_000015.9:g.93521422G>A , CM000677.1:g.93521422G>A GRCh37
NC_000015.8:g.91322426G>A NCBI36
NG_012826.1:g.82872G>A
NG_012826.2:g.82872G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000625662.3:c.2085-42G>A
ENST00000628118.2:c.1570G>A
ENST00000700551.1:c.*1409-42G>A ENSP00000515057.1:n.*1409-42G>A
ENST00000394196.9:c.2578-42G>A MANE Select ENSP00000377747.4:n.2578-42G>A
ENST00000635856.1:n.3150-42G>A
ENST00000636306.1:n.138-42G>A
ENST00000636881.1:c.1949-42G>A
ENST00000637572.1:n.3322-42G>A
ENST00000394196.8:c.2578-42G>A ENSP00000377747.4:n.2578-42G>A
ENST00000625463.1:c.118-42G>A ENSP00000486391.1:n.118-42G>A
ENST00000626874.2:c.2578-42G>A ENSP00000486629.1:n.2578-42G>A
ENST00000628118.1:n.315G>A
NM_001271.3:c.2578-42G>A NP_001262.3:n.2578-42G>A
NM_001271.4:c.2578-42G>A MANE Select NP_001262.3:n.2578-42G>A