Canonical Allele Identifier: CA329753

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 67618
• ClinVar RCV Id: RCV000058372 ; RCV002433561 ; RCV002513765
• dbSNP Id: rs74424227
• ExAC: 21:35743058 A / G
• gnomAD v2: 21-35743058-A-G
• gnomAD v3: 21-34370759-A-G
• gnomAD v4: 21-34370759-A-G
• MyVariant Identifiers: chr21:g.35743058A>G (hg19) ; chr21:g.34370759A>G (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370759A>G , CM000683.2:g.34370759A>G	GRCh38
NC_000021.8:g.35743058A>G , CM000683.1:g.35743058A>G	GRCh37
NC_000021.7:g.34664928A>G	NCBI36
NG_008804.1:g.11736A>G , LRG_291:g.11736A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.281A>G MANE Select	ENSP00000290310.2:p.Glu94Gly
ENST00000290310.3:c.281A>G	ENSP00000290310.2:p.Glu94Gly
NM_172201.1:c.281A>G , LRG_291t1:c.281A>G	NP_751951.1:p.Glu94Gly
XR_937683.1:n.562T>C
XR_937684.1:n.562T>C
XR_001755012.2:n.683T>C
XR_001755013.2:n.562T>C
XR_937683.2:n.562T>C
NM_172201.2:c.281A>G MANE Select	NP_751951.1:p.Glu94Gly