Canonical Allele Identifier: CA351012050
Gene: CHRNG HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.233407711C>T (hg19) chr2:g.232543001C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232543001C>T , CM000664.2:g.232543001C>T GRCh38
NC_000002.11:g.233407711C>T , CM000664.1:g.233407711C>T GRCh37
NC_000002.10:g.233115955C>T NCBI36
NG_012954.1:g.8275C>T
NG_012954.2:g.8310C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.724C>T MANE Select ENSP00000498757.1:p.Leu242Phe
ENST00000389492.3:c.568C>T ENSP00000374143.3:p.Leu190Phe
ENST00000389494.7:c.724C>T ENSP00000374145.3:p.Leu242Phe
NM_005199.4:c.724C>T NP_005190.4:p.Leu242Phe
NM_005199.5:c.724C>T MANE Select NP_005190.4:p.Leu242Phe
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