Canonical Allele Identifier: CA2573054929
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306180
ClinVar RCV Id: RCV001767133
dbSNP Id: rs2123423791
gnomAD v4: 21-34370618-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370619del , CM000683.2:g.34370619del GRCh38
NC_000021.8:g.35742918del , CM000683.1:g.35742918del GRCh37
NC_000021.7:g.34664788del NCBI36
NG_008804.1:g.11596del , LRG_291:g.11596del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.141del MANE Select ENSP00000290310.2:p.Tyr48MetfsTer8
ENST00000290310.3:c.141del ENSP00000290310.2:p.Tyr48MetfsTer8
NM_172201.1:c.141del , LRG_291t1:c.141del NP_751951.1:p.Tyr48MetfsTer8
XR_937683.1:n.702del
XR_937684.1:n.702del
XR_001755012.2:n.823del
XR_001755013.2:n.702del
XR_937683.2:n.702del
NM_172201.2:c.141del MANE Select NP_751951.1:p.Tyr48MetfsTer8
Search 100 bp 5'
Search 100 bp 3'