Canonical Allele Identifier: CA410196609
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 471499
ClinVar RCV Id: RCV000555620

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370668A>G , CM000683.2:g.34370668A>G GRCh38
NC_000021.8:g.35742967A>G , CM000683.1:g.35742967A>G GRCh37
NC_000021.7:g.34664837A>G NCBI36
NG_008804.1:g.11645A>G , LRG_291:g.11645A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.190A>G MANE Select ENSP00000290310.2:p.Ile64Val
ENST00000290310.3:c.190A>G ENSP00000290310.2:p.Ile64Val
NM_172201.1:c.190A>G , LRG_291t1:c.190A>G NP_751951.1:p.Ile64Val
XR_937683.1:n.653T>C
XR_937684.1:n.653T>C
XR_001755012.2:n.774T>C
XR_001755013.2:n.653T>C
XR_937683.2:n.653T>C
NM_172201.2:c.190A>G MANE Select NP_751951.1:p.Ile64Val