Canonical Allele Identifier: CA117926

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 6056
• ClinVar RCV Id: RCV000006428 ; RCV000058363
• dbSNP Id: rs16991654
• MyVariant Identifiers: chr21:g.35742955T>C (hg19) ; chr21:g.34370656T>C (hg38)
• PubMed: PMID:16922724 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370656T>C , CM000683.2:g.34370656T>C	GRCh38
NC_000021.8:g.35742955T>C , CM000683.1:g.35742955T>C	GRCh37
NC_000021.7:g.34664825T>C	NCBI36
NG_008804.1:g.11633T>C , LRG_291:g.11633T>C

Transcript Alleles

HGVS	Amino-acid change
NM_172201.1:c.178T>C , LRG_291t1:c.178T>C	NP_751951.1:p.Phe60Leu
XR_937683.1:n.665A>G
XR_937684.1:n.665A>G
XR_001755012.2:n.786A>G
XR_001755013.2:n.665A>G
XR_937683.2:n.665A>G
NM_172201.2:c.178T>C	NP_751951.1:p.Phe60Leu
ENST00000290310.3:c.178T>C	ENSP00000290310.2:p.Phe60Leu