Canonical Allele Identifier: CA410196770
Gene: KCNE2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370715C>A , CM000683.2:g.34370715C>A GRCh38
NC_000021.8:g.35743014C>A , CM000683.1:g.35743014C>A GRCh37
NC_000021.7:g.34664884C>A NCBI36
NG_008804.1:g.11692C>A , LRG_291:g.11692C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.237C>A MANE Select ENSP00000290310.2:p.His79Gln
ENST00000290310.3:c.237C>A ENSP00000290310.2:p.His79Gln
NM_172201.1:c.237C>A , LRG_291t1:c.237C>A NP_751951.1:p.His79Gln
XR_937683.1:n.606G>T
XR_937684.1:n.606G>T
XR_001755012.2:n.727G>T
XR_001755013.2:n.606G>T
XR_937683.2:n.606G>T
NM_172201.2:c.237C>A MANE Select NP_751951.1:p.His79Gln