Canonical Allele Identifier: CA66964225
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs767799187
gnomAD v3: 2-232539785-T-G
gnomAD v4: 2-232539785-T-G
MyVariant Identifiers: chr2:g.233404495T>G (hg19) chr2:g.232539785T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232539785T>G , CM000664.2:g.232539785T>G GRCh38
NC_000002.11:g.233404495T>G , CM000664.1:g.233404495T>G GRCh37
NC_000002.10:g.233112739T>G NCBI36
NG_012954.1:g.5059T>G
NG_012954.2:g.5094T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.38T>G MANE Select ENSP00000498757.1:p.Leu13Arg
ENST00000389492.3:c.38T>G ENSP00000374143.3:p.Leu13Arg
ENST00000389494.7:c.38T>G ENSP00000374145.3:p.Leu13Arg
ENST00000485094.1:n.59T>G
NM_005199.4:c.38T>G NP_005190.4:p.Leu13Arg
NM_005199.5:c.38T>G MANE Select NP_005190.4:p.Leu13Arg
Search 100 bp 5'
Search 100 bp 3'