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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:
CA199792
Gene: KCNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67619
ClinVar RCV Id:
RCV001703969
RCV002433562
dbSNP Id:
rs199473648
ExAC:
21:35742806 C / T
gnomAD v2:
21-35742806-C-T
gnomAD v3:
21-34370507-C-T
gnomAD v4:
21-34370507-C-T
COSMIC:
COSM2844249
MyVariant Identifiers:
chr21:g.35742806C>T (hg19)
chr21:g.34370507C>T (hg38)
PubMed:
PMID:10220144
PMID:15840476
PMID:18006462
PMID:22581653
PMID:23861362
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.34370507C>T , CM000683.2:g.34370507C>T
GRCh38
NC_000021.8:g.35742806C>T , CM000683.1:g.35742806C>T
GRCh37
NC_000021.7:g.34664676C>T
NCBI36
NG_008804.1:g.11484C>T , LRG_291:g.11484C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000290310.4:c.29C>T
MANE Select
ENSP00000290310.2:p.Thr10Met
ENST00000290310.3:c.29C>T
ENSP00000290310.2:p.Thr10Met
NM_172201.1:c.29C>T , LRG_291t1:c.29C>T
NP_751951.1:p.Thr10Met
XR_937683.1:n.814G>A
XR_937684.1:n.814G>A
XR_001755012.2:n.935G>A
XR_001755013.2:n.814G>A
XR_937683.2:n.814G>A
NM_172201.2:c.29C>T
MANE Select
NP_751951.1:p.Thr10Met
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