Canonical Allele Identifier: CA410197239
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35743135A>C (hg19) chr21:g.34370836A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370836A>C , CM000683.2:g.34370836A>C GRCh38
NC_000021.8:g.35743135A>C , CM000683.1:g.35743135A>C GRCh37
NC_000021.7:g.34665005A>C NCBI36
NG_008804.1:g.11813A>C , LRG_291:g.11813A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.358A>C MANE Select ENSP00000290310.2:p.Lys120Gln
ENST00000290310.3:c.358A>C ENSP00000290310.2:p.Lys120Gln
NM_172201.1:c.358A>C , LRG_291t1:c.358A>C NP_751951.1:p.Lys120Gln
XR_937683.1:n.485T>G
XR_937684.1:n.485T>G
XR_001755012.2:n.606T>G
XR_001755013.2:n.485T>G
XR_937683.2:n.485T>G
NM_172201.2:c.358A>C MANE Select NP_751951.1:p.Lys120Gln
Search 100 bp 5'
Search 100 bp 3'