Canonical Allele Identifier: CA512345350
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35742969C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370670C>A , CM000683.2:g.34370670C>A GRCh38
NC_000021.8:g.35742969C>A , CM000683.1:g.35742969C>A GRCh37
NC_000021.7:g.34664839C>A NCBI36
NG_008804.1:g.11647C>A , LRG_291:g.11647C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.192C>A MANE Select ENSP00000290310.2:p.Ile64=
ENST00000290310.3:c.192C>A ENSP00000290310.2:p.Ile64=
NM_172201.1:c.192C>A , LRG_291t1:c.192C>A NP_751951.1:p.Ile64=
XR_937683.1:n.651G>T
XR_937684.1:n.651G>T
XR_001755012.2:n.772G>T
XR_001755013.2:n.651G>T
XR_937683.2:n.651G>T
NM_172201.2:c.192C>A MANE Select NP_751951.1:p.Ile64=