Canonical Allele Identifier: CA492499640
Gene: CHD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.93521487A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92978257A>C , CM000677.2:g.92978257A>C GRCh38
NC_000015.9:g.93521487A>C , CM000677.1:g.93521487A>C GRCh37
NC_000015.8:g.91322491A>C NCBI36
NG_012826.1:g.82937A>C
NG_012826.2:g.82937A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000625662.3:c.2108A>C
ENST00000628118.2:c.1635A>C
ENST00000700551.1:c.*1432A>C ENSP00000515057.1:n.*1432A>C
ENST00000394196.9:c.2601A>C MANE Select ENSP00000377747.4:p.Thr867=
ENST00000635856.1:n.3173A>C
ENST00000636306.1:n.161A>C
ENST00000636881.1:c.1972A>C
ENST00000637572.1:n.3345A>C
ENST00000394196.8:c.2601A>C ENSP00000377747.4:p.Thr867=
ENST00000625463.1:c.141A>C ENSP00000486391.1:p.Thr47=
ENST00000626874.2:c.2601A>C ENSP00000486629.1:p.Thr867=
ENST00000628118.1:n.380A>C
NM_001271.3:c.2601A>C NP_001262.3:p.Thr867=
NM_001271.4:c.2601A>C MANE Select NP_001262.3:p.Thr867=