Canonical Allele Identifier: CA512345385
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35742993G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370694G>C , CM000683.2:g.34370694G>C GRCh38
NC_000021.8:g.35742993G>C , CM000683.1:g.35742993G>C GRCh37
NC_000021.7:g.34664863G>C NCBI36
NG_008804.1:g.11671G>C , LRG_291:g.11671G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.216G>C MANE Select ENSP00000290310.2:p.Val72=
ENST00000290310.3:c.216G>C ENSP00000290310.2:p.Val72=
NM_172201.1:c.216G>C , LRG_291t1:c.216G>C NP_751951.1:p.Val72=
XR_937683.1:n.627C>G
XR_937684.1:n.627C>G
XR_001755012.2:n.748C>G
XR_001755013.2:n.627C>G
XR_937683.2:n.627C>G
NM_172201.2:c.216G>C MANE Select NP_751951.1:p.Val72=
Search 100 bp 5'
Search 100 bp 3'