Canonical Allele Identifier: CA2168687

Gene: CHRNG

Linked Data

• dbSNP Id: rs773685905
• ExAC: 2:233406265 AAG / A
• gnomAD v2: 2-233406265-AAG-A
• gnomAD v4: 2-232541555-AAG-A
• MyVariant Identifiers: chr2:g.233406266_233406267del (hg19) ; chr2:g.232541556_232541557del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232541560_232541561del , CM000664.2:g.232541560_232541561del	GRCh38
NC_000002.11:g.233406270_233406271del , CM000664.1:g.233406270_233406271del	GRCh37
NC_000002.10:g.233114514_233114515del	NCBI36
NG_012954.1:g.6834_6835del
NG_012954.2:g.6869_6870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651502.1:c.506+31_506+32del MANE Select	ENSP00000498757.1:n.506+31_506+32del
ENST00000389492.3:c.350+849_350+850del	ENSP00000374143.3:n.350+849_350+850del
ENST00000389494.7:c.506+31_506+32del	ENSP00000374145.3:n.506+31_506+32del
ENST00000485094.1:n.558_559del
NM_005199.4:c.506+31_506+32del	NP_005190.4:n.506+31_506+32del
NM_005199.5:c.506+31_506+32del MANE Select	NP_005190.4:n.506+31_506+32del