Canonical Allele Identifier: CA2387099447
Gene: KCNE2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370846_34370848delinsCCT , CM000683.2:g.34370846_34370848delinsCCT GRCh38
NC_000021.8:g.35743145_35743147delinsCCT , CM000683.1:g.35743145_35743147delinsCCT GRCh37
NC_000021.7:g.34665015_34665017delinsCCT NCBI36
NG_008804.1:g.11823_11825delinsCCT , LRG_291:g.11823_11825delinsCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.368_370delinsCCT MANE Select ENSP00000290310.2:p.Pro123=
ENST00000290310.3:c.368_370delinsCCT ENSP00000290310.2:p.Pro123=
NM_172201.1:c.368_370delinsCCT , LRG_291t1:c.368_370delinsCCT NP_751951.1:p.Pro123=
XR_937683.1:n.473_475delinsAGG
XR_937684.1:n.473_475delinsAGG
XR_001755012.2:n.594_596delinsAGG
XR_001755013.2:n.473_475delinsAGG
XR_937683.2:n.473_475delinsAGG
NM_172201.2:c.368_370delinsCCT MANE Select NP_751951.1:p.Pro123=