Canonical Allele Identifier: CA218807
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67613
dbSNP Id: rs16991656

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370675C>T , CM000683.2:g.34370675C>T GRCh38
NC_000021.8:g.35742974C>T , CM000683.1:g.35742974C>T GRCh37
NC_000021.7:g.34664844C>T NCBI36
NG_008804.1:g.11652C>T , LRG_291:g.11652C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.197C>T MANE Select ENSP00000290310.2:p.Ala66Val
ENST00000290310.3:c.197C>T ENSP00000290310.2:p.Ala66Val
NM_172201.1:c.197C>T , LRG_291t1:c.197C>T NP_751951.1:p.Ala66Val
XR_937683.1:n.646G>A
XR_937684.1:n.646G>A
XR_001755012.2:n.767G>A
XR_001755013.2:n.646G>A
XR_937683.2:n.646G>A
NM_172201.2:c.197C>T MANE Select NP_751951.1:p.Ala66Val