Canonical Allele Identifier: CA410196792
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2011407

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370721T>A , CM000683.2:g.34370721T>A GRCh38
NC_000021.8:g.35743020T>A , CM000683.1:g.35743020T>A GRCh37
NC_000021.7:g.34664890T>A NCBI36
NG_008804.1:g.11698T>A , LRG_291:g.11698T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.243T>A MANE Select ENSP00000290310.2:p.Asn81Lys
ENST00000290310.3:c.243T>A ENSP00000290310.2:p.Asn81Lys
NM_172201.1:c.243T>A , LRG_291t1:c.243T>A NP_751951.1:p.Asn81Lys
XR_937683.1:n.600A>T
XR_937684.1:n.600A>T
XR_001755012.2:n.721A>T
XR_001755013.2:n.600A>T
XR_937683.2:n.600A>T
NM_172201.2:c.243T>A MANE Select NP_751951.1:p.Asn81Lys