Canonical Allele Identifier: CA211464
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67616
dbSNP Id: rs199473365

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370708G>A , CM000683.2:g.34370708G>A GRCh38
NC_000021.8:g.35743007G>A , CM000683.1:g.35743007G>A GRCh37
NC_000021.7:g.34664877G>A NCBI36
NG_008804.1:g.11685G>A , LRG_291:g.11685G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.230G>A MANE Select ENSP00000290310.2:p.Arg77Gln
ENST00000290310.3:c.230G>A ENSP00000290310.2:p.Arg77Gln
NM_172201.1:c.230G>A , LRG_291t1:c.230G>A NP_751951.1:p.Arg77Gln
XR_937683.1:n.613C>T
XR_937684.1:n.613C>T
XR_001755012.2:n.734C>T
XR_001755013.2:n.613C>T
XR_937683.2:n.613C>T
NM_172201.2:c.230G>A MANE Select NP_751951.1:p.Arg77Gln