Canonical Allele Identifier: CA2168691
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs750686793
ExAC: 2:233406287 C / T
gnomAD v2: 2-233406287-C-T
gnomAD v4: 2-232541577-C-T
MyVariant Identifiers: chr2:g.233406287C>T (hg19) chr2:g.232541577C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541577C>T , CM000664.2:g.232541577C>T GRCh38
NC_000002.11:g.233406287C>T , CM000664.1:g.233406287C>T GRCh37
NC_000002.10:g.233114531C>T NCBI36
NG_012954.1:g.6851C>T
NG_012954.2:g.6886C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.506+48C>T MANE Select ENSP00000498757.1:n.506+48C>T
ENST00000389492.3:c.351-846C>T ENSP00000374143.3:n.351-846C>T
ENST00000389494.7:c.506+48C>T ENSP00000374145.3:n.506+48C>T
ENST00000485094.1:n.575C>T
NM_005199.4:c.506+48C>T NP_005190.4:n.506+48C>T
NM_005199.5:c.506+48C>T MANE Select NP_005190.4:n.506+48C>T
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