Canonical Allele Identifier: CA2168684
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 2981211
ClinVar RCV Id: RCV003832353
dbSNP Id: rs200980501
ExAC: 2:233406253 T / C
gnomAD v2: 2-233406253-T-C
gnomAD v3: 2-232541543-T-C
gnomAD v4: 2-232541543-T-C
MyVariant Identifiers: chr2:g.233406253T>C (hg19) chr2:g.232541543T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541543T>C , CM000664.2:g.232541543T>C GRCh38
NC_000002.11:g.233406253T>C , CM000664.1:g.233406253T>C GRCh37
NC_000002.10:g.233114497T>C NCBI36
NG_012954.1:g.6817T>C
NG_012954.2:g.6852T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.506+14T>C MANE Select ENSP00000498757.1:n.506+14T>C
ENST00000389492.3:c.350+832T>C ENSP00000374143.3:n.350+832T>C
ENST00000389494.7:c.506+14T>C ENSP00000374145.3:n.506+14T>C
ENST00000485094.1:n.541T>C
NM_005199.4:c.506+14T>C NP_005190.4:n.506+14T>C
NM_005199.5:c.506+14T>C MANE Select NP_005190.4:n.506+14T>C
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