Canonical Allele Identifier: CA10013388
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 671162
ClinVar RCV Id: RCV000830344 RCV001498762 RCV002319942
dbSNP Id: rs751014874
ExAC: 21:35742807 G / A
gnomAD v2: 21-35742807-G-A
gnomAD v3: 21-34370508-G-A
gnomAD v4: 21-34370508-G-A
MyVariant Identifiers: chr21:g.35742807G>A (hg19) chr21:g.34370508G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370508G>A , CM000683.2:g.34370508G>A GRCh38
NC_000021.8:g.35742807G>A , CM000683.1:g.35742807G>A GRCh37
NC_000021.7:g.34664677G>A NCBI36
NG_008804.1:g.11485G>A , LRG_291:g.11485G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.30G>A MANE Select ENSP00000290310.2:p.Thr10=
ENST00000290310.3:c.30G>A ENSP00000290310.2:p.Thr10=
NM_172201.1:c.30G>A , LRG_291t1:c.30G>A NP_751951.1:p.Thr10=
XR_937683.1:n.813C>T
XR_937684.1:n.813C>T
XR_001755012.2:n.934C>T
XR_001755013.2:n.813C>T
XR_937683.2:n.813C>T
NM_172201.2:c.30G>A MANE Select NP_751951.1:p.Thr10=
Search 100 bp 5'
Search 100 bp 3'