Canonical Allele Identifier: CA410196339
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs1316451468
gnomAD v2: 21-35742892-G-A
gnomAD v4: 21-34370593-G-A
MyVariant Identifiers: chr21:g.35742892G>A (hg19) chr21:g.34370593G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370593G>A , CM000683.2:g.34370593G>A GRCh38
NC_000021.8:g.35742892G>A , CM000683.1:g.35742892G>A GRCh37
NC_000021.7:g.34664762G>A NCBI36
NG_008804.1:g.11570G>A , LRG_291:g.11570G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.115G>A MANE Select ENSP00000290310.2:p.Ala39Thr
ENST00000290310.3:c.115G>A ENSP00000290310.2:p.Ala39Thr
NM_172201.1:c.115G>A , LRG_291t1:c.115G>A NP_751951.1:p.Ala39Thr
XR_937683.1:n.728C>T
XR_937684.1:n.728C>T
XR_001755012.2:n.849C>T
XR_001755013.2:n.728C>T
XR_937683.2:n.728C>T
NM_172201.2:c.115G>A MANE Select NP_751951.1:p.Ala39Thr
Search 100 bp 5'
Search 100 bp 3'