Canonical Allele Identifier: CA2168465
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs762230262
ExAC: 2:233404494 C / T
gnomAD v2: 2-233404494-C-T
gnomAD v4: 2-232539784-C-T
MyVariant Identifiers: chr2:g.233404494C>T (hg19) chr2:g.232539784C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232539784C>T , CM000664.2:g.232539784C>T GRCh38
NC_000002.11:g.233404494C>T , CM000664.1:g.233404494C>T GRCh37
NC_000002.10:g.233112738C>T NCBI36
NG_012954.1:g.5058C>T
NG_012954.2:g.5093C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.37C>T MANE Select ENSP00000498757.1:p.Leu13=
ENST00000389492.3:c.37C>T ENSP00000374143.3:p.Leu13=
ENST00000389494.7:c.37C>T ENSP00000374145.3:p.Leu13=
ENST00000485094.1:n.58C>T
NM_005199.4:c.37C>T NP_005190.4:p.Leu13=
NM_005199.5:c.37C>T MANE Select NP_005190.4:p.Leu13=
Search 100 bp 5'
Search 100 bp 3'