Canonical Allele Identifier: CA145058
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67620
ClinVar RCV Id: RCV000058374 RCV000222131 RCV001823107
dbSNP Id: rs199473367
ExAC: 21:35743124 C / T
gnomAD v2: 21-35743124-C-T
gnomAD v3: 21-34370825-C-T
gnomAD v4: 21-34370825-C-T
COSMIC: COSM1413933
MyVariant Identifiers: chr21:g.35743124C>T (hg19) chr21:g.34370825C>T (hg38)
PubMed: PMID:10984545 PMID:14760488 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370825C>T , CM000683.2:g.34370825C>T GRCh38
NC_000021.8:g.35743124C>T , CM000683.1:g.35743124C>T GRCh37
NC_000021.7:g.34664994C>T NCBI36
NG_008804.1:g.11802C>T , LRG_291:g.11802C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.347C>T MANE Select ENSP00000290310.2:p.Ala116Val
ENST00000290310.3:c.347C>T ENSP00000290310.2:p.Ala116Val
NM_172201.1:c.347C>T , LRG_291t1:c.347C>T NP_751951.1:p.Ala116Val
XR_937683.1:n.496G>A
XR_937684.1:n.496G>A
XR_001755012.2:n.617G>A
XR_001755013.2:n.496G>A
XR_937683.2:n.496G>A
NM_172201.2:c.347C>T MANE Select NP_751951.1:p.Ala116Val
Search 100 bp 5'
Search 100 bp 3'