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Canonical Allele Identifier:
CA10013421
Gene: KCNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
898248
ClinVar RCV Id:
RCV001142017
RCV001142018
dbSNP Id:
rs16991654
ExAC:
21:35742955 T / A
gnomAD:
21:35742955 T / A
MyVariant Identifiers:
chr21:g.35742955T>A (hg19)
chr21:g.34370656T>A (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.34370656T>A , CM000683.2:g.34370656T>A
GRCh38
NC_000021.8:g.35742955T>A , CM000683.1:g.35742955T>A
GRCh37
NC_000021.7:g.34664825T>A
NCBI36
NG_008804.1:g.11633T>A , LRG_291:g.11633T>A
Transcript Alleles
HGVS
Amino-acid change
NM_172201.1:c.178T>A , LRG_291t1:c.178T>A
NP_751951.1:p.Phe60Ile
XR_937683.1:n.665A>T
XR_937684.1:n.665A>T
XR_001755012.2:n.786A>T
XR_001755013.2:n.665A>T
XR_937683.2:n.665A>T
NM_172201.2:c.178T>A
NP_751951.1:p.Phe60Ile
ENST00000290310.3:c.178T>A
ENSP00000290310.2:p.Phe60Ile
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