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Canonical Allele Identifier:
CA117926
Gene: KCNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6056
ClinVar RCV Id:
RCV000006428
RCV000058363
dbSNP Id:
rs16991654
MyVariant Identifiers:
chr21:g.35742955T>C (hg19)
chr21:g.34370656T>C (hg38)
PubMed:
PMID:16922724
PMID:22581653
Calculator
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.34370656T>C , CM000683.2:g.34370656T>C
GRCh38
NC_000021.8:g.35742955T>C , CM000683.1:g.35742955T>C
GRCh37
NC_000021.7:g.34664825T>C
NCBI36
NG_008804.1:g.11633T>C , LRG_291:g.11633T>C
Transcript Alleles
HGVS
Amino-acid change
NM_172201.1:c.178T>C , LRG_291t1:c.178T>C
NP_751951.1:p.Phe60Leu
XR_937683.1:n.665A>G
XR_937684.1:n.665A>G
XR_001755012.2:n.786A>G
XR_001755013.2:n.665A>G
XR_937683.2:n.665A>G
NM_172201.2:c.178T>C
NP_751951.1:p.Phe60Leu
ENST00000290310.3:c.178T>C
ENSP00000290310.2:p.Phe60Leu
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