Canonical Allele Identifier: CA492499620

Gene: CHD2

Linked Data

• MyVariant Identifiers: chr15:g.93518174G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92974944G>C , CM000677.2:g.92974944G>C	GRCh38
NC_000015.9:g.93518174G>C , CM000677.1:g.93518174G>C	GRCh37
NC_000015.8:g.91319178G>C	NCBI36
NG_012826.1:g.79624G>C
NG_012826.2:g.79624G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2078G>C
ENST00000628118.2:c.1519G>C
ENST00000700550.1:c.*565G>C	ENSP00000515056.1:n.*565G>C
ENST00000700551.1:c.*1402G>C	ENSP00000515057.1:n.*1402G>C
ENST00000394196.9:c.2571G>C MANE Select	ENSP00000377747.4:p.Gly857=
ENST00000635856.1:n.3143G>C
ENST00000636306.1:n.131G>C
ENST00000636881.1:c.1942G>C
ENST00000637572.1:n.3315G>C
ENST00000394196.8:c.2571G>C	ENSP00000377747.4:p.Gly857=
ENST00000625463.1:c.111G>C	ENSP00000486391.1:p.Gly37=
ENST00000626874.2:c.2571G>C	ENSP00000486629.1:p.Gly857=
ENST00000628118.1:n.264G>C
NM_001271.3:c.2571G>C	NP_001262.3:p.Gly857=
NM_001271.4:c.2571G>C MANE Select	NP_001262.3:p.Gly857=