Canonical Allele Identifier: CA410196723
Gene: KCNE2 HGNC NCBI

Linked Data

gnomAD v4: 21-34370702-A-C
MyVariant Identifiers: chr21:g.35743001A>C (hg19) chr21:g.34370702A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370702A>C , CM000683.2:g.34370702A>C GRCh38
NC_000021.8:g.35743001A>C , CM000683.1:g.35743001A>C GRCh37
NC_000021.7:g.34664871A>C NCBI36
NG_008804.1:g.11679A>C , LRG_291:g.11679A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.224A>C MANE Select ENSP00000290310.2:p.Lys75Thr
ENST00000290310.3:c.224A>C ENSP00000290310.2:p.Lys75Thr
NM_172201.1:c.224A>C , LRG_291t1:c.224A>C NP_751951.1:p.Lys75Thr
XR_937683.1:n.619T>G
XR_937684.1:n.619T>G
XR_001755012.2:n.740T>G
XR_001755013.2:n.619T>G
XR_937683.2:n.619T>G
NM_172201.2:c.224A>C MANE Select NP_751951.1:p.Lys75Thr
Search 100 bp 5'
Search 100 bp 3'