Canonical Allele Identifier: CA410196376
Gene: KCNE2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370609A>T , CM000683.2:g.34370609A>T GRCh38
NC_000021.8:g.35742908A>T , CM000683.1:g.35742908A>T GRCh37
NC_000021.7:g.34664778A>T NCBI36
NG_008804.1:g.11586A>T , LRG_291:g.11586A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.131A>T MANE Select ENSP00000290310.2:p.Glu44Val
ENST00000290310.3:c.131A>T ENSP00000290310.2:p.Glu44Val
NM_172201.1:c.131A>T , LRG_291t1:c.131A>T NP_751951.1:p.Glu44Val
XR_937683.1:n.712T>A
XR_937684.1:n.712T>A
XR_001755012.2:n.833T>A
XR_001755013.2:n.712T>A
XR_937683.2:n.712T>A
NM_172201.2:c.131A>T MANE Select NP_751951.1:p.Glu44Val