Canonical Allele Identifier: CA10013427
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1788745
ClinVar RCV Id: RCV002443854
dbSNP Id: rs138831412
ExAC: 21:35743003 A / C
gnomAD v2: 21-35743003-A-C
gnomAD v3: 21-34370704-A-C
gnomAD v4: 21-34370704-A-C
MyVariant Identifiers: chr21:g.35743003A>C (hg19) chr21:g.34370704A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370704A>C , CM000683.2:g.34370704A>C GRCh38
NC_000021.8:g.35743003A>C , CM000683.1:g.35743003A>C GRCh37
NC_000021.7:g.34664873A>C NCBI36
NG_008804.1:g.11681A>C , LRG_291:g.11681A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.226A>C MANE Select ENSP00000290310.2:p.Arg76=
ENST00000290310.3:c.226A>C ENSP00000290310.2:p.Arg76=
NM_172201.1:c.226A>C , LRG_291t1:c.226A>C NP_751951.1:p.Arg76=
XR_937683.1:n.617T>G
XR_937684.1:n.617T>G
XR_001755012.2:n.738T>G
XR_001755013.2:n.617T>G
XR_937683.2:n.617T>G
NM_172201.2:c.226A>C MANE Select NP_751951.1:p.Arg76=
Search 100 bp 5'
Search 100 bp 3'