Canonical Allele Identifier: CA410196271
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 429273
ClinVar RCV Id: RCV000493451
dbSNP Id: rs1131691291

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370575G>A , CM000683.2:g.34370575G>A GRCh38
NC_000021.8:g.35742874G>A , CM000683.1:g.35742874G>A GRCh37
NC_000021.7:g.34664744G>A NCBI36
NG_008804.1:g.11552G>A , LRG_291:g.11552G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.97G>A MANE Select ENSP00000290310.2:p.Glu33Lys
ENST00000290310.3:c.97G>A ENSP00000290310.2:p.Glu33Lys
NM_172201.1:c.97G>A , LRG_291t1:c.97G>A NP_751951.1:p.Glu33Lys
XR_937683.1:n.746C>T
XR_937684.1:n.746C>T
XR_001755012.2:n.867C>T
XR_001755013.2:n.746C>T
XR_937683.2:n.746C>T
NM_172201.2:c.97G>A MANE Select NP_751951.1:p.Glu33Lys