Canonical Allele Identifier: CA66966721
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs973622771
gnomAD v4: 2-232541567-C-T
MyVariant Identifiers: chr2:g.233406277C>T (hg19) chr2:g.232541567C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541567C>T , CM000664.2:g.232541567C>T GRCh38
NC_000002.11:g.233406277C>T , CM000664.1:g.233406277C>T GRCh37
NC_000002.10:g.233114521C>T NCBI36
NG_012954.1:g.6841C>T
NG_012954.2:g.6876C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.506+38C>T MANE Select ENSP00000498757.1:n.506+38C>T
ENST00000389492.3:c.351-856C>T ENSP00000374143.3:n.351-856C>T
ENST00000389494.7:c.506+38C>T ENSP00000374145.3:n.506+38C>T
ENST00000485094.1:n.565C>T
NM_005199.4:c.506+38C>T NP_005190.4:n.506+38C>T
NM_005199.5:c.506+38C>T MANE Select NP_005190.4:n.506+38C>T
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