Canonical Allele Identifier: CA211456

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 67621
• ClinVar RCV Id: RCV000058375 ; RCV000148519 ; RCV000990347 ; RCV002321557
• dbSNP Id: rs142153692
• ExAC: 21:35742817 G / A
• gnomAD v2: 21-35742817-G-A
• gnomAD v3: 21-34370518-G-A
• gnomAD v4: 21-34370518-G-A
• MyVariant Identifiers: chr21:g.35742817G>A (hg19) ; chr21:g.34370518G>A (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370518G>A , CM000683.2:g.34370518G>A	GRCh38
NC_000021.8:g.35742817G>A , CM000683.1:g.35742817G>A	GRCh37
NC_000021.7:g.34664687G>A	NCBI36
NG_008804.1:g.11495G>A , LRG_291:g.11495G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.40G>A MANE Select	ENSP00000290310.2:p.Val14Ile
ENST00000290310.3:c.40G>A	ENSP00000290310.2:p.Val14Ile
NM_172201.1:c.40G>A , LRG_291t1:c.40G>A	NP_751951.1:p.Val14Ile
XR_937683.1:n.803C>T
XR_937684.1:n.803C>T
XR_001755012.2:n.924C>T
XR_001755013.2:n.803C>T
XR_937683.2:n.803C>T
NM_172201.2:c.40G>A MANE Select	NP_751951.1:p.Val14Ile