Canonical Allele Identifier: CA145058

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 67620
• ClinVar RCV Id: RCV000058374 ; RCV000222131 ; RCV001823107
• dbSNP Id: rs199473367
• ExAC: 21:35743124 C / T
• gnomAD v2: 21-35743124-C-T
• gnomAD v3: 21-34370825-C-T
• gnomAD v4: 21-34370825-C-T
• COSMIC: COSM1413933
• MyVariant Identifiers: chr21:g.35743124C>T (hg19) ; chr21:g.34370825C>T (hg38)
• PubMed: PMID:10984545 ; PMID:14760488 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370825C>T , CM000683.2:g.34370825C>T	GRCh38
NC_000021.8:g.35743124C>T , CM000683.1:g.35743124C>T	GRCh37
NC_000021.7:g.34664994C>T	NCBI36
NG_008804.1:g.11802C>T , LRG_291:g.11802C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.347C>T MANE Select	ENSP00000290310.2:p.Ala116Val
ENST00000290310.3:c.347C>T	ENSP00000290310.2:p.Ala116Val
NM_172201.1:c.347C>T , LRG_291t1:c.347C>T	NP_751951.1:p.Ala116Val
XR_937683.1:n.496G>A
XR_937684.1:n.496G>A
XR_001755012.2:n.617G>A
XR_001755013.2:n.496G>A
XR_937683.2:n.496G>A
NM_172201.2:c.347C>T MANE Select	NP_751951.1:p.Ala116Val