Canonical Allele Identifier: CA431810535
Gene: CHRNG HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.233406231T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541521T>A , CM000664.2:g.232541521T>A GRCh38
NC_000002.11:g.233406231T>A , CM000664.1:g.233406231T>A GRCh37
NC_000002.10:g.233114475T>A NCBI36
NG_012954.1:g.6795T>A
NG_012954.2:g.6830T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.498T>A MANE Select ENSP00000498757.1:p.Leu166=
ENST00000389492.3:c.350+810T>A ENSP00000374143.3:n.350+810T>A
ENST00000389494.7:c.498T>A ENSP00000374145.3:p.Leu166=
ENST00000485094.1:n.519T>A
NM_005199.4:c.498T>A NP_005190.4:p.Leu166=
NM_005199.5:c.498T>A MANE Select NP_005190.4:p.Leu166=