Canonical Allele Identifier: CA10013435
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs780568059
ExAC: 21:35743072 CA / C
gnomAD v2: 21-35743072-CA-C
gnomAD v4: 21-34370773-CA-C
MyVariant Identifiers: chr21:g.35743073del (hg19) chr21:g.34370774del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370776del , CM000683.2:g.34370776del GRCh38
NC_000021.8:g.35743075del , CM000683.1:g.35743075del GRCh37
NC_000021.7:g.34664945del NCBI36
NG_008804.1:g.11753del , LRG_291:g.11753del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.298del MANE Select ENSP00000290310.2:p.Ile100SerfsTer2
ENST00000290310.3:c.298del ENSP00000290310.2:p.Ile100SerfsTer2
NM_172201.1:c.298del , LRG_291t1:c.298del NP_751951.1:p.Ile100SerfsTer2
XR_937683.1:n.547del
XR_937684.1:n.547del
XR_001755012.2:n.668del
XR_001755013.2:n.547del
XR_937683.2:n.547del
NM_172201.2:c.298del MANE Select NP_751951.1:p.Ile100SerfsTer2
Search 100 bp 5'
Search 100 bp 3'