Canonical Allele Identifier: CA351012054
Gene: CHRNG HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.233407711C>A (hg19) chr2:g.232543001C>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000651502.1:c.724C>A MANE Select ENSP00000498757.1:p.Leu242Ile
ENST00000389492.3:c.568C>A ENSP00000374143.3:p.Leu190Ile
ENST00000389494.7:c.724C>A ENSP00000374145.3:p.Leu242Ile
NM_005199.4:c.724C>A NP_005190.4:p.Leu242Ile
NM_005199.5:c.724C>A MANE Select NP_005190.4:p.Leu242Ile
Search 100 bp 5'
Search 100 bp 3'