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Canonical Allele Identifier:
CA218805
Gene: KCNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6054
ClinVar RCV Id:
RCV000006426
RCV000058362
RCV000148521
RCV000212498
RCV000241603
dbSNP Id:
rs74315448
ExAC:
21:35742947 T / C
gnomAD:
21:35742947 T / C
MyVariant Identifiers:
chr21:g.35742947T>C (hg19)
chr21:g.34370648T>C (hg38)
PubMed:
PMID:10219239
PMID:10973849
PMID:10984545
PMID:11034315
PMID:11101505
PMID:14760488
PMID:15084216
PMID:16922724
PMID:19219384
PMID:19716085
PMID:19841298
PMID:19863579
PMID:20042375
PMID:21143119
PMID:22378279
PMID:22581653
PMID:23098067
PMID:23382499
PMID:23861362
PMID:24055113
PMID:24144883
PMID:24606995
PMID:24631775
PMID:24796621
PMID:25351510
PMID:25637381
PMID:26159999
PMID:26284702
PMID:27884173
PMID:28341588
PMID:28794082
Calculator
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Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.34370648T>C , CM000683.2:g.34370648T>C
GRCh38
NC_000021.8:g.35742947T>C , CM000683.1:g.35742947T>C
GRCh37
NC_000021.7:g.34664817T>C
NCBI36
NG_008804.1:g.11625T>C , LRG_291:g.11625T>C
Transcript Alleles
HGVS
Amino-acid change
NM_172201.1:c.170T>C , LRG_291t1:c.170T>C
NP_751951.1:p.Ile57Thr
XR_937683.1:n.673A>G
XR_937684.1:n.673A>G
XR_001755012.2:n.794A>G
XR_001755013.2:n.673A>G
XR_937683.2:n.673A>G
NM_172201.2:c.170T>C
NP_751951.1:p.Ile57Thr
ENST00000290310.3:c.170T>C
ENSP00000290310.2:p.Ile57Thr
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