Canonical Allele Identifier: CA10013447
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs750011503
ExAC: 21:35743128 TG / T
gnomAD v2: 21-35743128-TG-T
gnomAD v4: 21-34370829-TG-T
MyVariant Identifiers: chr21:g.35743129del (hg19) chr21:g.34370830del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370832del , CM000683.2:g.34370832del GRCh38
NC_000021.8:g.35743131del , CM000683.1:g.35743131del GRCh37
NC_000021.7:g.34665001del NCBI36
NG_008804.1:g.11809del , LRG_291:g.11809del

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.354del MANE Select ENSP00000290310.2:p.Phe119SerfsTer16
ENST00000290310.3:c.354del ENSP00000290310.2:p.Phe119SerfsTer16
NM_172201.1:c.354del , LRG_291t1:c.354del NP_751951.1:p.Phe119SerfsTer16
XR_937683.1:n.491del
XR_937684.1:n.491del
XR_001755012.2:n.612del
XR_001755013.2:n.491del
XR_937683.2:n.491del
NM_172201.2:c.354del MANE Select NP_751951.1:p.Phe119SerfsTer16
Search 100 bp 5'
Search 100 bp 3'