Canonical Allele Identifier: CA2168586
Gene: CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 397615
ClinVar RCV Id: RCV000449634 RCV000762330 RCV001007785 RCV003479120
dbSNP Id: rs777219451
ExAC: 2:233405327 C / T
gnomAD v2: 2-233405327-C-T
gnomAD v3: 2-232540617-C-T
gnomAD v4: 2-232540617-C-T
MyVariant Identifiers: chr2:g.233405327C>T (hg19) chr2:g.232540617C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232540617C>T , CM000664.2:g.232540617C>T GRCh38
NC_000002.11:g.233405327C>T , CM000664.1:g.233405327C>T GRCh37
NC_000002.10:g.233113571C>T NCBI36
NG_012954.1:g.5891C>T
NG_012954.2:g.5926C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.256C>T MANE Select ENSP00000498757.1:p.Arg86Cys
ENST00000389492.3:c.256C>T ENSP00000374143.3:p.Arg86Cys
ENST00000389494.7:c.256C>T ENSP00000374145.3:p.Arg86Cys
ENST00000485094.1:n.277C>T
NM_005199.4:c.256C>T NP_005190.4:p.Arg86Cys
NM_005199.5:c.256C>T MANE Select NP_005190.4:p.Arg86Cys
Search 100 bp 5'
Search 100 bp 3'