Canonical Allele Identifier: CA199953

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 67615
• ClinVar RCV Id: RCV000058368 ; RCV000171812 ; RCV000248455 ; RCV000170566 ; RCV001086272 ; RCV000845300
• dbSNP Id: rs2234916
• ExAC: 21:35742799 A / G
• gnomAD v2: 21-35742799-A-G
• gnomAD v3: 21-34370500-A-G
• gnomAD v4: 21-34370500-A-G
• MyVariant Identifiers: chr21:g.35742799A>G (hg19) ; chr21:g.34370500A>G (hg38)
• PubMed: PMID:10984545 ; PMID:11468227 ; PMID:12402336 ; PMID:14661677 ; PMID:14760488 ; PMID:15599693 ; PMID:17161064 ; PMID:17210839 ; PMID:22581653 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370500A>G , CM000683.2:g.34370500A>G	GRCh38
NC_000021.8:g.35742799A>G , CM000683.1:g.35742799A>G	GRCh37
NC_000021.7:g.34664669A>G	NCBI36
NG_008804.1:g.11477A>G , LRG_291:g.11477A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.22A>G MANE Select	ENSP00000290310.2:p.Thr8Ala
ENST00000290310.3:c.22A>G	ENSP00000290310.2:p.Thr8Ala
NM_172201.1:c.22A>G , LRG_291t1:c.22A>G	NP_751951.1:p.Thr8Ala
XR_937683.1:n.821T>C
XR_937684.1:n.821T>C
XR_001755012.2:n.942T>C
XR_001755013.2:n.821T>C
XR_937683.2:n.821T>C
NM_172201.2:c.22A>G MANE Select	NP_751951.1:p.Thr8Ala