Canonical Allele Identifier: CA211459
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67623
dbSNP Id: rs148968498

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