Canonical Allele Identifier: CA492499685

Gene: CHD2

Linked Data

• gnomAD v4: 15-92978314-C-T
• MyVariant Identifiers: chr15:g.93521544C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978314C>T , CM000677.2:g.92978314C>T	GRCh38
NC_000015.9:g.93521544C>T , CM000677.1:g.93521544C>T	GRCh37
NC_000015.8:g.91322548C>T	NCBI36
NG_012826.1:g.82994C>T
NG_012826.2:g.82994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2165C>T
ENST00000628118.2:c.1692C>T
ENST00000700551.1:c.*1489C>T	ENSP00000515057.1:n.*1489C>T
ENST00000394196.9:c.2658C>T MANE Select	ENSP00000377747.4:p.Asp886=
ENST00000635856.1:n.3230C>T
ENST00000636306.1:n.218C>T
ENST00000636881.1:c.2029C>T
ENST00000637572.1:n.3402C>T
ENST00000394196.8:c.2658C>T	ENSP00000377747.4:p.Asp886=
ENST00000625463.1:c.198C>T	ENSP00000486391.1:p.Asp66=
ENST00000626874.2:c.2658C>T	ENSP00000486629.1:p.Asp886=
ENST00000628118.1:n.437C>T
NM_001271.3:c.2658C>T	NP_001262.3:p.Asp886=
NM_001271.4:c.2658C>T MANE Select	NP_001262.3:p.Asp886=