Canonical Allele Identifier: CA301981

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 190793
• ClinVar RCV Id: RCV000288510 ; RCV000331921 ; RCV000381892 ; RCV000505711 ; RCV002485074
• dbSNP Id: rs786205806
• gnomAD v2: 21-35736455-G-A
• gnomAD v3: 21-34364156-G-A
• gnomAD v4: 21-34364156-G-A
• MyVariant Identifiers: chr21:g.35736455G>A (hg19) ; chr21:g.34364156G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34364156G>A , CM000683.2:g.34364156G>A	GRCh38
NC_000021.8:g.35736455G>A , CM000683.1:g.35736455G>A	GRCh37
NC_000021.7:g.34658325G>A	NCBI36
NG_008804.1:g.5133G>A , LRG_291:g.5133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.-13+5G>A MANE Select	ENSP00000290310.2:n.-13+5G>A
ENST00000290310.3:c.-13+5G>A	ENSP00000290310.2:n.-13+5G>A
NM_172201.1:c.-13+5G>A , LRG_291t1:c.-13+5G>A	NP_751951.1:n.-13+5G>A
XR_937683.1:n.1046-2080C>T
XR_937684.1:n.1046-2080C>T
XR_001755012.2:n.1672-2080C>T
XR_001755013.2:n.1551-2080C>T
XR_937683.2:n.1046-2080C>T
NM_172201.2:c.-13+5G>A MANE Select	NP_751951.1:n.-13+5G>A