Canonical Allele Identifier: CA351009414
Gene: CHRNG HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.233406229C>T (hg19) chr2:g.232541519C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541519C>T , CM000664.2:g.232541519C>T GRCh38
NC_000002.11:g.233406229C>T , CM000664.1:g.233406229C>T GRCh37
NC_000002.10:g.233114473C>T NCBI36
NG_012954.1:g.6793C>T
NG_012954.2:g.6828C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.496C>T MANE Select ENSP00000498757.1:p.Leu166Phe
ENST00000389492.3:c.350+808C>T ENSP00000374143.3:n.350+808C>T
ENST00000389494.7:c.496C>T ENSP00000374145.3:p.Leu166Phe
ENST00000485094.1:n.517C>T
NM_005199.4:c.496C>T NP_005190.4:p.Leu166Phe
NM_005199.5:c.496C>T MANE Select NP_005190.4:p.Leu166Phe
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