Canonical Allele Identifier: CA512345472
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35743041T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370742T>A , CM000683.2:g.34370742T>A GRCh38
NC_000021.8:g.35743041T>A , CM000683.1:g.35743041T>A GRCh37
NC_000021.7:g.34664911T>A NCBI36
NG_008804.1:g.11719T>A , LRG_291:g.11719T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.264T>A MANE Select ENSP00000290310.2:p.Ile88=
ENST00000290310.3:c.264T>A ENSP00000290310.2:p.Ile88=
NM_172201.1:c.264T>A , LRG_291t1:c.264T>A NP_751951.1:p.Ile88=
XR_937683.1:n.579A>T
XR_937684.1:n.579A>T
XR_001755012.2:n.700A>T
XR_001755013.2:n.579A>T
XR_937683.2:n.579A>T
NM_172201.2:c.264T>A MANE Select NP_751951.1:p.Ile88=