Canonical Allele Identifier: CA410196468
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs1447716899
gnomAD v2: 21-35742928-C-G
gnomAD v3: 21-34370629-C-G
gnomAD v4: 21-34370629-C-G
MyVariant Identifiers: chr21:g.35742928C>G (hg19) chr21:g.34370629C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370629C>G , CM000683.2:g.34370629C>G GRCh38
NC_000021.8:g.35742928C>G , CM000683.1:g.35742928C>G GRCh37
NC_000021.7:g.34664798C>G NCBI36
NG_008804.1:g.11606C>G , LRG_291:g.11606C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.151C>G MANE Select ENSP00000290310.2:p.Leu51Val
ENST00000290310.3:c.151C>G ENSP00000290310.2:p.Leu51Val
NM_172201.1:c.151C>G , LRG_291t1:c.151C>G NP_751951.1:p.Leu51Val
XR_937683.1:n.692G>C
XR_937684.1:n.692G>C
XR_001755012.2:n.813G>C
XR_001755013.2:n.692G>C
XR_937683.2:n.692G>C
NM_172201.2:c.151C>G MANE Select NP_751951.1:p.Leu51Val
Search 100 bp 5'
Search 100 bp 3'