Canonical Allele Identifier: CA2168765
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 285431
ClinVar RCV Id: RCV000297688 RCV001143347 RCV001143346
dbSNP Id: rs150556220
ExAC: 2:233407650 G / A
gnomAD v2: 2-233407650-G-A
gnomAD v3: 2-232542940-G-A
gnomAD v4: 2-232542940-G-A
MyVariant Identifiers: chr2:g.233407650G>A (hg19) chr2:g.232542940G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232542940G>A , CM000664.2:g.232542940G>A GRCh38
NC_000002.11:g.233407650G>A , CM000664.1:g.233407650G>A GRCh37
NC_000002.10:g.233115894G>A NCBI36
NG_012954.1:g.8214G>A
NG_012954.2:g.8249G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.663G>A MANE Select ENSP00000498757.1:p.Ala221=
ENST00000389492.3:c.507G>A ENSP00000374143.3:p.Ala169=
ENST00000389494.7:c.663G>A ENSP00000374145.3:p.Ala221=
NM_005199.4:c.663G>A NP_005190.4:p.Ala221=
NM_005199.5:c.663G>A MANE Select NP_005190.4:p.Ala221=
Search 100 bp 5'
Search 100 bp 3'