Canonical Allele Identifier: CA320365716
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs745605145

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370674G>A , CM000683.2:g.34370674G>A GRCh38
NC_000021.8:g.35742973G>A , CM000683.1:g.35742973G>A GRCh37
NC_000021.7:g.34664843G>A NCBI36
NG_008804.1:g.11651G>A , LRG_291:g.11651G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.196G>A MANE Select ENSP00000290310.2:p.Ala66Thr
ENST00000290310.3:c.196G>A ENSP00000290310.2:p.Ala66Thr
NM_172201.1:c.196G>A , LRG_291t1:c.196G>A NP_751951.1:p.Ala66Thr
XR_937683.1:n.647C>T
XR_937684.1:n.647C>T
XR_001755012.2:n.768C>T
XR_001755013.2:n.647C>T
XR_937683.2:n.647C>T
NM_172201.2:c.196G>A MANE Select NP_751951.1:p.Ala66Thr