Canonical Allele Identifier: CA66968412
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs200473548
gnomAD v4: 2-232542899-A-G
MyVariant Identifiers: chr2:g.233407609A>G (hg19) chr2:g.232542899A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232542899A>G , CM000664.2:g.232542899A>G GRCh38
NC_000002.11:g.233407609A>G , CM000664.1:g.233407609A>G GRCh37
NC_000002.10:g.233115853A>G NCBI36
NG_012954.1:g.8173A>G
NG_012954.2:g.8208A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.622A>G MANE Select ENSP00000498757.1:p.Ile208Val
ENST00000389492.3:c.466A>G ENSP00000374143.3:p.Ile156Val
ENST00000389494.7:c.622A>G ENSP00000374145.3:p.Ile208Val
NM_005199.4:c.622A>G NP_005190.4:p.Ile208Val
NM_005199.5:c.622A>G MANE Select NP_005190.4:p.Ile208Val
Search 100 bp 5'
Search 100 bp 3'