Canonical Allele Identifier: CA66966779

Gene: CHRNG

Linked Data

• dbSNP Id: rs764894950
• gnomAD v4: 2-232541595-AAGGCCTGGGCAAGGCTTCTGGCCTTGGCTCTGGCAGCACCTAG-A
• MyVariant Identifiers: chr2:g.233406306_233406348del (hg19) ; chr2:g.232541596_232541638del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232541604_232541646del , CM000664.2:g.232541604_232541646del	GRCh38
NC_000002.11:g.233406314_233406356del , CM000664.1:g.233406314_233406356del	GRCh37
NC_000002.10:g.233114558_233114600del	NCBI36
NG_012954.1:g.6878_6920del
NG_012954.2:g.6913_6955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651502.1:c.506+75_506+117del MANE Select	ENSP00000498757.1:n.506+75_506+117del
ENST00000389492.3:c.351-819_351-777del	ENSP00000374143.3:n.351-819_351-777del
ENST00000389494.7:c.506+75_506+117del	ENSP00000374145.3:n.506+75_506+117del
ENST00000485094.1:n.602_644del
NM_005199.4:c.506+75_506+117del	NP_005190.4:n.506+75_506+117del
NM_005199.5:c.506+75_506+117del MANE Select	NP_005190.4:n.506+75_506+117del