Canonical Allele Identifier: CA2168712
Gene: CHRNG HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232542459G>A
GRCh37 chr2:g.233407169G>A
gnomAD v2:
2:233407169 G / A
gnomAD v3:
2:232542459 G / A
gnomAD v4:
chr2-232542459-G-A
Joint Max Group AF 0.0001071 (NFE)
Genomes Max Group AF 0.00009048 (NFE)
Exomes Max Group AF 0.00010461 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232542459G>A , CM000664.2:g.232542459G>A GRCh38
NC_000002.11:g.233407169G>A , CM000664.1:g.233407169G>A GRCh37
NC_000002.10:g.233115413G>A NCBI36
NG_012954.1:g.7733G>A
NG_012954.2:g.7768G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.543G>A MANE Select ENSP00000498757.1:p.Gln181=
ENST00000389492.3:c.387G>A ENSP00000374143.3:p.Gln129=
ENST00000389494.7:c.543G>A ENSP00000374145.3:p.Gln181=
NM_005199.4:c.543G>A NP_005190.4:p.Gln181=
NM_005199.5:c.543G>A MANE Select NP_005190.4:p.Gln181=
Search 100 bp 5'
Search 100 bp 3'