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Canonical Allele Identifier:
CA117924
Gene: KCNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6055
ClinVar RCV Id:
RCV000006427
RCV000058377
RCV000157256
RCV000490451
RCV000756281
dbSNP Id:
rs74315449
ExAC:
21:35742856 C / T
gnomAD:
21:35742856 C / T
MyVariant Identifiers:
chr21:g.35742856C>T (hg19)
chr21:g.34370557C>T (hg38)
PubMed:
PMID:15368194
PMID:16487223
PMID:22581653
PMID:24681347
Calculator
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.34370557C>T , CM000683.2:g.34370557C>T
GRCh38
NC_000021.8:g.35742856C>T , CM000683.1:g.35742856C>T
GRCh37
NC_000021.7:g.34664726C>T
NCBI36
NG_008804.1:g.11534C>T , LRG_291:g.11534C>T
Transcript Alleles
HGVS
Amino-acid change
NM_172201.1:c.79C>T , LRG_291t1:c.79C>T
NP_751951.1:p.Arg27Cys
XR_937683.1:n.764G>A
XR_937684.1:n.764G>A
XR_001755012.2:n.885G>A
XR_001755013.2:n.764G>A
XR_937683.2:n.764G>A
NM_172201.2:c.79C>T
NP_751951.1:p.Arg27Cys
ENST00000290310.3:c.79C>T
ENSP00000290310.2:p.Arg27Cys
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