Canonical Allele Identifier: CA645619099
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs1979536230
gnomAD v4: 21-34370593-GC-G
COSMIC: COSM5858573
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370595del , CM000683.2:g.34370595del GRCh38
NC_000021.8:g.35742894del , CM000683.1:g.35742894del GRCh37
NC_000021.7:g.34664764del NCBI36
NG_008804.1:g.11572del , LRG_291:g.11572del

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.117del MANE Select ENSP00000290310.2:p.Val41LeufsTer15
ENST00000290310.3:c.117del ENSP00000290310.2:p.Val41LeufsTer15
NM_172201.1:c.117del , LRG_291t1:c.117del NP_751951.1:p.Val41LeufsTer15
XR_937683.1:n.727del
XR_937684.1:n.727del
XR_001755012.2:n.848del
XR_001755013.2:n.727del
XR_937683.2:n.727del
NM_172201.2:c.117del MANE Select NP_751951.1:p.Val41LeufsTer15
Search 100 bp 5'
Search 100 bp 3'