Canonical Allele Identifier: CA410196399
Gene: KCNE2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370616C>G , CM000683.2:g.34370616C>G GRCh38
NC_000021.8:g.35742915C>G , CM000683.1:g.35742915C>G GRCh37
NC_000021.7:g.34664785C>G NCBI36
NG_008804.1:g.11593C>G , LRG_291:g.11593C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.138C>G MANE Select ENSP00000290310.2:p.Phe46Leu
ENST00000290310.3:c.138C>G ENSP00000290310.2:p.Phe46Leu
NM_172201.1:c.138C>G , LRG_291t1:c.138C>G NP_751951.1:p.Phe46Leu
XR_937683.1:n.705G>C
XR_937684.1:n.705G>C
XR_001755012.2:n.826G>C
XR_001755013.2:n.705G>C
XR_937683.2:n.705G>C
NM_172201.2:c.138C>G MANE Select NP_751951.1:p.Phe46Leu