Canonical Allele Identifier: CA10013393
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs762880940
ExAC: 21:35742829 AT / A
gnomAD v2: 21-35742829-AT-A
gnomAD v4: 21-34370530-AT-A
MyVariant Identifiers: chr21:g.35742830del (hg19) chr21:g.34370531del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370535del , CM000683.2:g.34370535del GRCh38
NC_000021.8:g.35742834del , CM000683.1:g.35742834del GRCh37
NC_000021.7:g.34664704del NCBI36
NG_008804.1:g.11512del , LRG_291:g.11512del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.57del MANE Select ENSP00000290310.2:p.Phe19LeufsTer?
ENST00000290310.3:c.57del ENSP00000290310.2:p.Phe19LeufsTer?
NM_172201.1:c.57del , LRG_291t1:c.57del NP_751951.1:p.Phe19LeufsTer?
XR_937683.1:n.790del
XR_937684.1:n.790del
XR_001755012.2:n.911del
XR_001755013.2:n.790del
XR_937683.2:n.790del
NM_172201.2:c.57del MANE Select NP_751951.1:p.Phe19LeufsTer?
Search 100 bp 5'
Search 100 bp 3'