Canonical Allele Identifier: CA393893717

Gene: CHD2

Linked Data

• MyVariant Identifiers: chr15:g.93521497G>C (hg19) ; chr15:g.92978267G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978267G>C , CM000677.2:g.92978267G>C	GRCh38
NC_000015.9:g.93521497G>C , CM000677.1:g.93521497G>C	GRCh37
NC_000015.8:g.91322501G>C	NCBI36
NG_012826.1:g.82947G>C
NG_012826.2:g.82947G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2118G>C
ENST00000628118.2:c.1645G>C
ENST00000700551.1:c.*1442G>C	ENSP00000515057.1:n.*1442G>C
ENST00000394196.9:c.2611G>C MANE Select	ENSP00000377747.4:p.Gly871Arg
ENST00000635856.1:n.3183G>C
ENST00000636306.1:n.171G>C
ENST00000636881.1:c.1982G>C
ENST00000637572.1:n.3355G>C
ENST00000394196.8:c.2611G>C	ENSP00000377747.4:p.Gly871Arg
ENST00000625463.1:c.151G>C	ENSP00000486391.1:p.Gly51Arg
ENST00000626874.2:c.2611G>C	ENSP00000486629.1:p.Gly871Arg
ENST00000628118.1:n.390G>C
NM_001271.3:c.2611G>C	NP_001262.3:p.Gly871Arg
NM_001271.4:c.2611G>C MANE Select	NP_001262.3:p.Gly871Arg