Canonical Allele Identifier: CA492499673

Gene: CHD2

Linked Data

• MyVariant Identifiers: chr15:g.93521529A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978299A>C , CM000677.2:g.92978299A>C	GRCh38
NC_000015.9:g.93521529A>C , CM000677.1:g.93521529A>C	GRCh37
NC_000015.8:g.91322533A>C	NCBI36
NG_012826.1:g.82979A>C
NG_012826.2:g.82979A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2150A>C
ENST00000628118.2:c.1677A>C
ENST00000700551.1:c.*1474A>C	ENSP00000515057.1:n.*1474A>C
ENST00000394196.9:c.2643A>C MANE Select	ENSP00000377747.4:p.Thr881=
ENST00000635856.1:n.3215A>C
ENST00000636306.1:n.203A>C
ENST00000636881.1:c.2014A>C
ENST00000637572.1:n.3387A>C
ENST00000394196.8:c.2643A>C	ENSP00000377747.4:p.Thr881=
ENST00000625463.1:c.183A>C	ENSP00000486391.1:p.Thr61=
ENST00000626874.2:c.2643A>C	ENSP00000486629.1:p.Thr881=
ENST00000628118.1:n.422A>C
NM_001271.3:c.2643A>C	NP_001262.3:p.Thr881=
NM_001271.4:c.2643A>C MANE Select	NP_001262.3:p.Thr881=