ClinGen Allele Registry
Allele Registry
Pathogenicity Calculator
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA211459
Gene: KCNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67623
ClinVar RCV Id:
RCV000058378
RCV000148520
RCV000786140
dbSNP Id:
rs148968498
ExAC:
21:35742857 G / A
gnomAD:
21:35742857 G / A
MyVariant Identifiers:
chr21:g.35742857G>A (hg19)
chr21:g.34370558G>A (hg38)
PubMed:
PMID:19716085
PMID:22581653
Calculator
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.34370558G>A , CM000683.2:g.34370558G>A
GRCh38
NC_000021.8:g.35742857G>A , CM000683.1:g.35742857G>A
GRCh37
NC_000021.7:g.34664727G>A
NCBI36
NG_008804.1:g.11535G>A , LRG_291:g.11535G>A
Transcript Alleles
HGVS
Amino-acid change
NM_172201.1:c.80G>A , LRG_291t1:c.80G>A
NP_751951.1:p.Arg27His
XR_937683.1:n.763C>T
XR_937684.1:n.763C>T
XR_001755012.2:n.884C>T
XR_001755013.2:n.763C>T
XR_937683.2:n.763C>T
NM_172201.2:c.80G>A
NP_751951.1:p.Arg27His
ENST00000290310.3:c.80G>A
ENSP00000290310.2:p.Arg27His
Search 100 bp 5'
Search 100 bp 3'