Canonical Allele Identifier: CA512345015
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35742822C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370523C>T , CM000683.2:g.34370523C>T GRCh38
NC_000021.8:g.35742822C>T , CM000683.1:g.35742822C>T GRCh37
NC_000021.7:g.34664692C>T NCBI36
NG_008804.1:g.11500C>T , LRG_291:g.11500C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.45C>T MANE Select ENSP00000290310.2:p.Phe15=
ENST00000290310.3:c.45C>T ENSP00000290310.2:p.Phe15=
NM_172201.1:c.45C>T , LRG_291t1:c.45C>T NP_751951.1:p.Phe15=
XR_937683.1:n.798G>A
XR_937684.1:n.798G>A
XR_001755012.2:n.919G>A
XR_001755013.2:n.798G>A
XR_937683.2:n.798G>A
NM_172201.2:c.45C>T MANE Select NP_751951.1:p.Phe15=