Canonical Allele Identifier: CA10013421
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 898248
dbSNP Id: rs16991654

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
NM_172201.2:c.178T>A MANE Select NP_751951.1:p.Phe60Ile