Canonical Allele Identifier: CA2168609
Gene: CHRNG HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232540691G>A
GRCh37 chr2:g.233405401G>A
gnomAD v2:
2:233405401 G / A
gnomAD v3:
2:232540691 G / A
gnomAD v4:
chr2-232540691-G-A
Joint Max Group AF 0.00003468 (AFR)
Genomes Max Group AF 0.00001914 (AFR)
Exomes Max Group AF 0.00002376 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232540691G>A , CM000664.2:g.232540691G>A GRCh38
NC_000002.11:g.233405401G>A , CM000664.1:g.233405401G>A GRCh37
NC_000002.10:g.233113645G>A NCBI36
NG_012954.1:g.5965G>A
NG_012954.2:g.6000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.330G>A MANE Select ENSP00000498757.1:p.Pro110=
ENST00000389492.3:c.330G>A ENSP00000374143.3:p.Pro110=
ENST00000389494.7:c.330G>A ENSP00000374145.3:p.Pro110=
ENST00000485094.1:n.351G>A
NM_005199.4:c.330G>A NP_005190.4:p.Pro110=
NM_005199.5:c.330G>A MANE Select NP_005190.4:p.Pro110=
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