Canonical Allele Identifier: CA2168689
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs758219115
ExAC: 2:233406278 T / A
gnomAD v2: 2-233406278-T-A
gnomAD v4: 2-232541568-T-A
MyVariant Identifiers: chr2:g.233406278T>A (hg19) chr2:g.232541568T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541568T>A , CM000664.2:g.232541568T>A GRCh38
NC_000002.11:g.233406278T>A , CM000664.1:g.233406278T>A GRCh37
NC_000002.10:g.233114522T>A NCBI36
NG_012954.1:g.6842T>A
NG_012954.2:g.6877T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.506+39T>A MANE Select ENSP00000498757.1:n.506+39T>A
ENST00000389492.3:c.351-855T>A ENSP00000374143.3:n.351-855T>A
ENST00000389494.7:c.506+39T>A ENSP00000374145.3:n.506+39T>A
ENST00000485094.1:n.566T>A
NM_005199.4:c.506+39T>A NP_005190.4:n.506+39T>A
NM_005199.5:c.506+39T>A MANE Select NP_005190.4:n.506+39T>A
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