Canonical Allele Identifier: CA11140767
Gene: CHRNG HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232542288T>G
GRCh37 chr2:g.233406998T>G
gnomAD v2:
2:233406998 T / G
gnomAD v3:
2:232542288 T / G
gnomAD v4:
chr2-232542288-T-G
Joint Max Group AF 0.85055947 (EAS)
Genomes Max Group AF 0.85024504 (EAS)
Exomes Max Group AF 0.84784571 (EAS)
ClinVar RCV:
RCV001654260
ClinVar Variation:
1246168
dbSNP:
1881492
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232542288T>G , CM000664.2:g.232542288T>G GRCh38
NC_000002.11:g.233406998T>G , CM000664.1:g.233406998T>G GRCh37
NC_000002.10:g.233115242T>G NCBI36
NG_012954.1:g.7562T>G
NG_012954.2:g.7597T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.507-135T>G MANE Select ENSP00000498757.1:n.507-135T>G
ENST00000389492.3:c.351-135T>G ENSP00000374143.3:n.351-135T>G
ENST00000389494.7:c.507-135T>G ENSP00000374145.3:n.507-135T>G
NM_005199.4:c.507-135T>G NP_005190.4:n.507-135T>G
NM_005199.5:c.507-135T>G MANE Select NP_005190.4:n.507-135T>G
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