Canonical Allele Identifier: CA1022013071
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs1979530148
gnomAD v3: 21-34370511-GGA-G
gnomAD v4: 21-34370511-GGA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370512_34370513del , CM000683.2:g.34370512_34370513del GRCh38
NC_000021.8:g.35742811_35742812del , CM000683.1:g.35742811_35742812del GRCh37
NC_000021.7:g.34664681_34664682del NCBI36
NG_008804.1:g.11489_11490del , LRG_291:g.11489_11490del

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.34_35del MANE Select ENSP00000290310.2:p.Glu12ArgfsTer21
ENST00000290310.3:c.34_35del ENSP00000290310.2:p.Glu12ArgfsTer21
NM_172201.1:c.34_35del , LRG_291t1:c.34_35del NP_751951.1:p.Glu12ArgfsTer21
XR_937683.1:n.808_809del
XR_937684.1:n.808_809del
XR_001755012.2:n.929_930del
XR_001755013.2:n.808_809del
XR_937683.2:n.808_809del
NM_172201.2:c.34_35del MANE Select NP_751951.1:p.Glu12ArgfsTer21
Search 100 bp 5'
Search 100 bp 3'