Canonical Allele Identifier: CA410196966
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 427978
ClinVar RCV Id: RCV000497782
dbSNP Id: rs1555837113
MyVariant Identifiers: chr21:g.35743062G>T (hg19) chr21:g.34370763G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370763G>T , CM000683.2:g.34370763G>T GRCh38
NC_000021.8:g.35743062G>T , CM000683.1:g.35743062G>T GRCh37
NC_000021.7:g.34664932G>T NCBI36
NG_008804.1:g.11740G>T , LRG_291:g.11740G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.285G>T MANE Select ENSP00000290310.2:p.Lys95Asn
ENST00000290310.3:c.285G>T ENSP00000290310.2:p.Lys95Asn
NM_172201.1:c.285G>T , LRG_291t1:c.285G>T NP_751951.1:p.Lys95Asn
XR_937683.1:n.558C>A
XR_937684.1:n.558C>A
XR_001755012.2:n.679C>A
XR_001755013.2:n.558C>A
XR_937683.2:n.558C>A
NM_172201.2:c.285G>T MANE Select NP_751951.1:p.Lys95Asn
Search 100 bp 5'
Search 100 bp 3'