Canonical Allele Identifier: CA2168478
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs374453845
ExAC: 2:233404564 G / T
gnomAD v2: 2-233404564-G-T
gnomAD v3: 2-232539854-G-T
gnomAD v4: 2-232539854-G-T
MyVariant Identifiers: chr2:g.233404564G>T (hg19) chr2:g.232539854G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232539854G>T , CM000664.2:g.232539854G>T GRCh38
NC_000002.11:g.233404564G>T , CM000664.1:g.233404564G>T GRCh37
NC_000002.10:g.233112808G>T NCBI36
NG_012954.1:g.5128G>T
NG_012954.2:g.5163G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.55+52G>T MANE Select ENSP00000498757.1:n.55+52G>T
ENST00000389492.3:c.55+52G>T ENSP00000374143.3:n.55+52G>T
ENST00000389494.7:c.55+52G>T ENSP00000374145.3:n.55+52G>T
ENST00000485094.1:n.76+52G>T
NM_005199.4:c.55+52G>T NP_005190.4:n.55+52G>T
NM_005199.5:c.55+52G>T MANE Select NP_005190.4:n.55+52G>T
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