Canonical Allele Identifier: CA410196872
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs771699510
gnomAD v3: 21-34370740-A-G
gnomAD v4: 21-34370740-A-G
MyVariant Identifiers: chr21:g.35743039A>G (hg19) chr21:g.34370740A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370740A>G , CM000683.2:g.34370740A>G GRCh38
NC_000021.8:g.35743039A>G , CM000683.1:g.35743039A>G GRCh37
NC_000021.7:g.34664909A>G NCBI36
NG_008804.1:g.11717A>G , LRG_291:g.11717A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.262A>G MANE Select ENSP00000290310.2:p.Ile88Val
ENST00000290310.3:c.262A>G ENSP00000290310.2:p.Ile88Val
NM_172201.1:c.262A>G , LRG_291t1:c.262A>G NP_751951.1:p.Ile88Val
XR_937683.1:n.581T>C
XR_937684.1:n.581T>C
XR_001755012.2:n.702T>C
XR_001755013.2:n.581T>C
XR_937683.2:n.581T>C
NM_172201.2:c.262A>G MANE Select NP_751951.1:p.Ile88Val
Search 100 bp 5'
Search 100 bp 3'