Canonical Allele Identifier: CA2168512
Gene: CHRNG HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232540066G>A
GRCh37 chr2:g.233404776G>A
Revel Score:
ENST00000389494 0.376
ENST00000541596 0.376
ENST00000389492 0.376
gnomAD v2:
2:233404776 G / A
gnomAD v3:
2:232540066 G / A
gnomAD v4:
chr2-232540066-G-A
Joint Max Group AF 0.00401278 (EAS)
Genomes Max Group AF 0.00178347 (EAS)
Exomes Max Group AF 0.00418167 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232540066G>A , CM000664.2:g.232540066G>A GRCh38
NC_000002.11:g.233404776G>A , CM000664.1:g.233404776G>A GRCh37
NC_000002.10:g.233113020G>A NCBI36
NG_012954.1:g.5340G>A
NG_012954.2:g.5375G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.130G>A MANE Select ENSP00000498757.1:p.Ala44Thr
ENST00000389492.3:c.130G>A ENSP00000374143.3:p.Ala44Thr
ENST00000389494.7:c.130G>A ENSP00000374145.3:p.Ala44Thr
ENST00000485094.1:n.151G>A
NM_005199.4:c.130G>A NP_005190.4:p.Ala44Thr
NM_005199.5:c.130G>A MANE Select NP_005190.4:p.Ala44Thr
Search 100 bp 5'
Search 100 bp 3'