Canonical Allele Identifier: CA2817773444
Gene: KCNE2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370725_34370726insACAAC , CM000683.2:g.34370725_34370726insACAAC GRCh38
NC_000021.8:g.35743024_35743025insACAAC , CM000683.1:g.35743024_35743025insACAAC GRCh37
NC_000021.7:g.34664894_34664895insACAAC NCBI36
NG_008804.1:g.11702_11703insACAAC , LRG_291:g.11702_11703insACAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.247_248insACAAC MANE Select ENSP00000290310.2:p.Pro83HisfsTer9
ENST00000290310.3:c.247_248insACAAC ENSP00000290310.2:p.Pro83HisfsTer9
NM_172201.1:c.247_248insACAAC , LRG_291t1:c.247_248insACAAC NP_751951.1:p.Pro83HisfsTer9
XR_937683.1:n.596_597insTTGTG
XR_937684.1:n.596_597insTTGTG
XR_001755012.2:n.717_718insTTGTG
XR_001755013.2:n.596_597insTTGTG
XR_937683.2:n.596_597insTTGTG
NM_172201.2:c.247_248insACAAC MANE Select NP_751951.1:p.Pro83HisfsTer9