Canonical Allele Identifier: CA410196402
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs1979537731
gnomAD v3: 21-34370617-T-C
gnomAD v4: 21-34370617-T-C
MyVariant Identifiers: chr21:g.35742916T>C (hg19) chr21:g.34370617T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370617T>C , CM000683.2:g.34370617T>C GRCh38
NC_000021.8:g.35742916T>C , CM000683.1:g.35742916T>C GRCh37
NC_000021.7:g.34664786T>C NCBI36
NG_008804.1:g.11594T>C , LRG_291:g.11594T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.139T>C MANE Select ENSP00000290310.2:p.Tyr47His
ENST00000290310.3:c.139T>C ENSP00000290310.2:p.Tyr47His
NM_172201.1:c.139T>C , LRG_291t1:c.139T>C NP_751951.1:p.Tyr47His
XR_937683.1:n.704A>G
XR_937684.1:n.704A>G
XR_001755012.2:n.825A>G
XR_001755013.2:n.704A>G
XR_937683.2:n.704A>G
NM_172201.2:c.139T>C MANE Select NP_751951.1:p.Tyr47His
Search 100 bp 5'
Search 100 bp 3'