Canonical Allele Identifier: CA2168474
Gene: CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs767078808
ExAC: 2:233404537 TG / T
gnomAD v2: 2-233404537-TG-T
gnomAD v3: 2-232539827-TG-T
gnomAD v4: 2-232539827-TG-T
MyVariant Identifiers: chr2:g.233404538del (hg19) chr2:g.232539829del (hg38) chr2:g.232539828del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232539831del , CM000664.2:g.232539831del GRCh38
NC_000002.11:g.233404541del , CM000664.1:g.233404541del GRCh37
NC_000002.10:g.233112785del NCBI36
NG_012954.1:g.5105del
NG_012954.2:g.5140del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.55+29del MANE Select ENSP00000498757.1:n.55+29del
ENST00000389492.3:c.55+29del ENSP00000374143.3:n.55+29del
ENST00000389494.7:c.55+29del ENSP00000374145.3:n.55+29del
ENST00000485094.1:n.76+29del
NM_005199.4:c.55+29del NP_005190.4:n.55+29del
NM_005199.5:c.55+29del MANE Select NP_005190.4:n.55+29del
Search 100 bp 5'
Search 100 bp 3'