Canonical Allele Identifier: CA2168650
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 894889
ClinVar RCV Id: RCV001136679 RCV001138912
dbSNP Id: rs781249093
ExAC: 2:233406127 G / A
gnomAD v2: 2-233406127-G-A
gnomAD v3: 2-232541417-G-A
gnomAD v4: 2-232541417-G-A
MyVariant Identifiers: chr2:g.233406127G>A (hg19) chr2:g.232541417G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541417G>A , CM000664.2:g.232541417G>A GRCh38
NC_000002.11:g.233406127G>A , CM000664.1:g.233406127G>A GRCh37
NC_000002.10:g.233114371G>A NCBI36
NG_012954.1:g.6691G>A
NG_012954.2:g.6726G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.394G>A MANE Select ENSP00000498757.1:p.Val132Met
ENST00000389492.3:c.350+706G>A ENSP00000374143.3:n.350+706G>A
ENST00000389494.7:c.394G>A ENSP00000374145.3:p.Val132Met
ENST00000485094.1:n.415G>A
NM_005199.4:c.394G>A NP_005190.4:p.Val132Met
NM_005199.5:c.394G>A MANE Select NP_005190.4:p.Val132Met
Search 100 bp 5'
Search 100 bp 3'