Canonical Allele Identifier: CA10013424

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 538876
• ClinVar RCV Id: RCV002422367 ; RCV002477436
• dbSNP Id: rs200403369
• ExAC: 21:35742981 G / A
• gnomAD v2: 21-35742981-G-A
• gnomAD v3: 21-34370682-G-A
• gnomAD v4: 21-34370682-G-A
• MyVariant Identifiers: chr21:g.35742981G>A (hg19) ; chr21:g.34370682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370682G>A , CM000683.2:g.34370682G>A	GRCh38
NC_000021.8:g.35742981G>A , CM000683.1:g.35742981G>A	GRCh37
NC_000021.7:g.34664851G>A	NCBI36
NG_008804.1:g.11659G>A , LRG_291:g.11659G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.204G>A MANE Select	ENSP00000290310.2:p.Leu68=
ENST00000290310.3:c.204G>A	ENSP00000290310.2:p.Leu68=
NM_172201.1:c.204G>A , LRG_291t1:c.204G>A	NP_751951.1:p.Leu68=
XR_937683.1:n.639C>T
XR_937684.1:n.639C>T
XR_001755012.2:n.760C>T
XR_001755013.2:n.639C>T
XR_937683.2:n.639C>T
NM_172201.2:c.204G>A MANE Select	NP_751951.1:p.Leu68=