Canonical Allele Identifier: CA199792

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 67619
• ClinVar RCV Id: RCV000058373 ; RCV000171565 ; RCV000218738 ; RCV000576170 ; RCV000999581 ; RCV002433562 ; RCV001703969
• dbSNP Id: rs199473648
• ExAC: 21:35742806 C / T
• gnomAD v2: 21-35742806-C-T
• gnomAD v3: 21-34370507-C-T
• gnomAD v4: 21-34370507-C-T
• COSMIC: COSM2844249
• MyVariant Identifiers: chr21:g.35742806C>T (hg19) ; chr21:g.34370507C>T (hg38)
• PubMed: PMID:10220144 ; PMID:15840476 ; PMID:18006462 ; PMID:22581653 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370507C>T , CM000683.2:g.34370507C>T	GRCh38
NC_000021.8:g.35742806C>T , CM000683.1:g.35742806C>T	GRCh37
NC_000021.7:g.34664676C>T	NCBI36
NG_008804.1:g.11484C>T , LRG_291:g.11484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.29C>T MANE Select	ENSP00000290310.2:p.Thr10Met
ENST00000290310.3:c.29C>T	ENSP00000290310.2:p.Thr10Met
NM_172201.1:c.29C>T , LRG_291t1:c.29C>T	NP_751951.1:p.Thr10Met
XR_937683.1:n.814G>A
XR_937684.1:n.814G>A
XR_001755012.2:n.935G>A
XR_001755013.2:n.814G>A
XR_937683.2:n.814G>A
NM_172201.2:c.29C>T MANE Select	NP_751951.1:p.Thr10Met