Canonical Allele Identifier: CA2842305593
Gene: CHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92978210dup , CM000677.2:g.92978210dup GRCh38
NC_000015.9:g.93521440dup , CM000677.1:g.93521440dup GRCh37
NC_000015.8:g.91322444dup NCBI36
NG_012826.1:g.82890dup
NG_012826.2:g.82890dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000625662.3:c.2085-24dup
ENST00000628118.2:c.1588dup
ENST00000700551.1:c.*1409-24dup ENSP00000515057.1:n.*1409-24dup
ENST00000394196.9:c.2578-24dup MANE Select ENSP00000377747.4:n.2578-24dup
ENST00000635856.1:n.3150-24dup
ENST00000636306.1:n.138-24dup
ENST00000636881.1:c.1949-24dup
ENST00000637572.1:n.3322-24dup
ENST00000394196.8:c.2578-24dup ENSP00000377747.4:n.2578-24dup
ENST00000625463.1:c.118-24dup ENSP00000486391.1:n.118-24dup
ENST00000626874.2:c.2578-24dup ENSP00000486629.1:n.2578-24dup
ENST00000628118.1:n.333dup
NM_001271.3:c.2578-24dup NP_001262.3:n.2578-24dup
NM_001271.4:c.2578-24dup MANE Select NP_001262.3:n.2578-24dup