Canonical Allele Identifier: CA410196458
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35742926T>C (hg19) chr21:g.34370627T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370627T>C , CM000683.2:g.34370627T>C GRCh38
NC_000021.8:g.35742926T>C , CM000683.1:g.35742926T>C GRCh37
NC_000021.7:g.34664796T>C NCBI36
NG_008804.1:g.11604T>C , LRG_291:g.11604T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.149T>C MANE Select ENSP00000290310.2:p.Ile50Thr
ENST00000290310.3:c.149T>C ENSP00000290310.2:p.Ile50Thr
NM_172201.1:c.149T>C , LRG_291t1:c.149T>C NP_751951.1:p.Ile50Thr
XR_937683.1:n.694A>G
XR_937684.1:n.694A>G
XR_001755012.2:n.815A>G
XR_001755013.2:n.694A>G
XR_937683.2:n.694A>G
NM_172201.2:c.149T>C MANE Select NP_751951.1:p.Ile50Thr
Search 100 bp 5'
Search 100 bp 3'