Canonical Allele Identifier: CA410196183
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35742834T>A (hg19) chr21:g.34370535T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370535T>A , CM000683.2:g.34370535T>A GRCh38
NC_000021.8:g.35742834T>A , CM000683.1:g.35742834T>A GRCh37
NC_000021.7:g.34664704T>A NCBI36
NG_008804.1:g.11512T>A , LRG_291:g.11512T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.57T>A MANE Select ENSP00000290310.2:p.Phe19Leu
ENST00000290310.3:c.57T>A ENSP00000290310.2:p.Phe19Leu
NM_172201.1:c.57T>A , LRG_291t1:c.57T>A NP_751951.1:p.Phe19Leu
XR_937683.1:n.786A>T
XR_937684.1:n.786A>T
XR_001755012.2:n.907A>T
XR_001755013.2:n.786A>T
XR_937683.2:n.786A>T
NM_172201.2:c.57T>A MANE Select NP_751951.1:p.Phe19Leu
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