Canonical Allele Identifier: CA2168681

Gene: CHRNG

Linked Data

• dbSNP Id: rs770183705
• ExAC: 2:233406227 C / CAGTGAGGCCATTTATTGGGGAGG
• gnomAD v2: 2-233406227-C-CAGTGAGGCCATTTATTGGGGAGG
• gnomAD v4: 2-232541517-C-CAGTGAGGCCATTTATTGGGGAGG
• MyVariant Identifiers: chr2:g.233406227_233406228insAGTGAGGCCATTTATTGGGGAGG (hg19) ; chr2:g.232541517_232541518insAGTGAGGCCATTTATTGGGGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232541517_232541518insAGTGAGGCCATTTATTGGGGAGG , CM000664.2:g.232541517_232541518insAGTGAGGCCATTTATTGGGGAGG	GRCh38
NC_000002.11:g.233406227_233406228insAGTGAGGCCATTTATTGGGGAGG , CM000664.1:g.233406227_233406228insAGTGAGGCCATTTATTGGGGAGG	GRCh37
NC_000002.10:g.233114471_233114472insAGTGAGGCCATTTATTGGGGAGG	NCBI36
NG_012954.1:g.6791_6792insAGTGAGGCCATTTATTGGGGAGG
NG_012954.2:g.6826_6827insAGTGAGGCCATTTATTGGGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651502.1:c.494_495insAGTGAGGCCATTTATTGGGGAGG MANE Select	ENSP00000498757.1:p.Leu166ValfsTer25
ENST00000389492.3:c.350+806_350+807insAGTGAGGCCATTTATTGGGGAGG	ENSP00000374143.3:n.350+806_350+807insAGTGAGGCCATTTATTGGGGAGG...
ENST00000389494.7:c.494_495insAGTGAGGCCATTTATTGGGGAGG	ENSP00000374145.3:p.Leu166ValfsTer25
ENST00000485094.1:n.515_516insAGTGAGGCCATTTATTGGGGAGG
NM_005199.4:c.494_495insAGTGAGGCCATTTATTGGGGAGG	NP_005190.4:p.Leu166ValfsTer25
NM_005199.5:c.494_495insAGTGAGGCCATTTATTGGGGAGG MANE Select	NP_005190.4:p.Leu166ValfsTer25