Canonical Allele Identifier: CA512298178
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1733751
ClinVar RCV Id: RCV002452625
dbSNP Id: rs1979561027
gnomAD v3: 21-34370844-C-A
gnomAD v4: 21-34370844-C-A
MyVariant Identifiers: chr21:g.35743143C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370844C>A , CM000683.2:g.34370844C>A GRCh38
NC_000021.8:g.35743143C>A , CM000683.1:g.35743143C>A GRCh37
NC_000021.7:g.34665013C>A NCBI36
NG_008804.1:g.11821C>A , LRG_291:g.11821C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.366C>A MANE Select ENSP00000290310.2:p.Ser122=
ENST00000290310.3:c.366C>A ENSP00000290310.2:p.Ser122=
NM_172201.1:c.366C>A , LRG_291t1:c.366C>A NP_751951.1:p.Ser122=
XR_937683.1:n.477G>T
XR_937684.1:n.477G>T
XR_001755012.2:n.598G>T
XR_001755013.2:n.477G>T
XR_937683.2:n.477G>T
NM_172201.2:c.366C>A MANE Select NP_751951.1:p.Ser122=
Search 100 bp 5'
Search 100 bp 3'