Canonical Allele Identifier: CA2168508
Gene: CHRNG HGNC NCBI
COSMIC:
COSM4964387 (not active)
MyVariant.info:
GRCh38 chr2:g.232540061G>A
GRCh37 chr2:g.233404771G>A
Revel Score:
ENST00000389494 0.735
ENST00000541596 0.735
ENST00000389492 0.735
gnomAD v2:
2:233404771 G / A
gnomAD v3:
2:232540061 G / A
gnomAD v4:
chr2-232540061-G-A
Joint Max Group AF 0.00336198 (NFE)
Genomes Max Group AF 0.0038179 (NFE)
Exomes Max Group AF 0.00331229 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232540061G>A , CM000664.2:g.232540061G>A GRCh38
NC_000002.11:g.233404771G>A , CM000664.1:g.233404771G>A GRCh37
NC_000002.10:g.233113015G>A NCBI36
NG_012954.1:g.5335G>A
NG_012954.2:g.5370G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.125G>A MANE Select ENSP00000498757.1:p.Arg42Gln
ENST00000389492.3:c.125G>A ENSP00000374143.3:p.Arg42Gln
ENST00000389494.7:c.125G>A ENSP00000374145.3:p.Arg42Gln
ENST00000485094.1:n.146G>A
NM_005199.4:c.125G>A NP_005190.4:p.Arg42Gln
NM_005199.5:c.125G>A MANE Select NP_005190.4:p.Arg42Gln
Search 100 bp 5'
Search 100 bp 3'