Canonical Allele Identifier: CA410196166
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35742827G>C (hg19) chr21:g.34370528G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370528G>C , CM000683.2:g.34370528G>C GRCh38
NC_000021.8:g.35742827G>C , CM000683.1:g.35742827G>C GRCh37
NC_000021.7:g.34664697G>C NCBI36
NG_008804.1:g.11505G>C , LRG_291:g.11505G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.50G>C MANE Select ENSP00000290310.2:p.Arg17Thr
ENST00000290310.3:c.50G>C ENSP00000290310.2:p.Arg17Thr
NM_172201.1:c.50G>C , LRG_291t1:c.50G>C NP_751951.1:p.Arg17Thr
XR_937683.1:n.793C>G
XR_937684.1:n.793C>G
XR_001755012.2:n.914C>G
XR_001755013.2:n.793C>G
XR_937683.2:n.793C>G
NM_172201.2:c.50G>C MANE Select NP_751951.1:p.Arg17Thr
Search 100 bp 5'
Search 100 bp 3'