Canonical Allele Identifier: CA10013421

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 898248
• ClinVar RCV Id: RCV001142017 ; RCV001142018
• dbSNP Id: rs16991654
• ExAC: 21:35742955 T / A
• gnomAD v2: 21-35742955-T-A
• gnomAD v3: 21-34370656-T-A
• gnomAD v4: 21-34370656-T-A
• MyVariant Identifiers: chr21:g.35742955T>A (hg19) ; chr21:g.34370656T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.178T>A MANE Select	ENSP00000290310.2:p.Phe60Ile
ENST00000290310.3:c.178T>A	ENSP00000290310.2:p.Phe60Ile
NM_172201.1:c.178T>A , LRG_291t1:c.178T>A	NP_751951.1:p.Phe60Ile
XR_937683.1:n.665A>T
XR_937684.1:n.665A>T
XR_001755012.2:n.786A>T
XR_001755013.2:n.665A>T
XR_937683.2:n.665A>T
NM_172201.2:c.178T>A MANE Select	NP_751951.1:p.Phe60Ile