Canonical Allele Identifier: CA117924

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 6055
• ClinVar RCV Id: RCV000006427 ; RCV000058377 ; RCV000157256 ; RCV000490451 ; RCV000756281 ; RCV001080271 ; RCV004018576
• dbSNP Id: rs74315449
• ExAC: 21:35742856 C / T
• gnomAD v2: 21-35742856-C-T
• gnomAD v3: 21-34370557-C-T
• gnomAD v4: 21-34370557-C-T
• MyVariant Identifiers: chr21:g.35742856C>T (hg19) ; chr21:g.34370557C>T (hg38)
• PubMed: PMID:15368194 ; PMID:16487223 ; PMID:22581653 ; PMID:24681347

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370557C>T , CM000683.2:g.34370557C>T	GRCh38
NC_000021.8:g.35742856C>T , CM000683.1:g.35742856C>T	GRCh37
NC_000021.7:g.34664726C>T	NCBI36
NG_008804.1:g.11534C>T , LRG_291:g.11534C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.79C>T MANE Select	ENSP00000290310.2:p.Arg27Cys
ENST00000290310.3:c.79C>T	ENSP00000290310.2:p.Arg27Cys
NM_172201.1:c.79C>T , LRG_291t1:c.79C>T	NP_751951.1:p.Arg27Cys
XR_937683.1:n.764G>A
XR_937684.1:n.764G>A
XR_001755012.2:n.885G>A
XR_001755013.2:n.764G>A
XR_937683.2:n.764G>A
NM_172201.2:c.79C>T MANE Select	NP_751951.1:p.Arg27Cys