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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA128049
Gene: CHRNG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18337
ClinVar RCV Id:
RCV000020003
RCV000020004
dbSNP Id:
rs121912670
ExAC:
2:233407702 C / T
gnomAD v2:
2-233407702-C-T
gnomAD v3:
2-232542992-C-T
gnomAD v4:
2-232542992-C-T
MyVariant Identifiers:
chr2:g.233407702C>T (hg19)
chr2:g.232542992C>T (hg38)
PubMed:
PMID:16826520
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.232542992C>T , CM000664.2:g.232542992C>T
GRCh38
NC_000002.11:g.233407702C>T , CM000664.1:g.233407702C>T
GRCh37
NC_000002.10:g.233115946C>T
NCBI36
NG_012954.1:g.8266C>T
NG_012954.2:g.8301C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000651502.1:c.715C>T
MANE Select
ENSP00000498757.1:p.Arg239Cys
ENST00000389492.3:c.559C>T
ENSP00000374143.3:p.Arg187Cys
ENST00000389494.7:c.715C>T
ENSP00000374145.3:p.Arg239Cys
NM_005199.4:c.715C>T
NP_005190.4:p.Arg239Cys
NM_005199.5:c.715C>T
MANE Select
NP_005190.4:p.Arg239Cys
Search 100 bp 5'
Search 100 bp 3'