Canonical Allele Identifier: CA117926
Gene: KCNE2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.34370656T>C
GRCh37 chr21:g.35742955T>C
Revel Score:
ENST00000290310 (MANE Select) 0.937
gnomAD v4:
chr21-34370656-T-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000006428
RCV000058363
ClinVar Variation:
6056
dbSNP:
16991654
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370656T>C , CM000683.2:g.34370656T>C GRCh38
NC_000021.8:g.35742955T>C , CM000683.1:g.35742955T>C GRCh37
NC_000021.7:g.34664825T>C NCBI36
NG_008804.1:g.11633T>C , LRG_291:g.11633T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.178T>C MANE Select ENSP00000290310.2:p.Phe60Leu
ENST00000290310.3:c.178T>C ENSP00000290310.2:p.Phe60Leu
NM_172201.1:c.178T>C , LRG_291t1:c.178T>C NP_751951.1:p.Phe60Leu
XR_937683.1:n.665A>G
XR_937684.1:n.665A>G
XR_001755012.2:n.786A>G
XR_001755013.2:n.665A>G
XR_937683.2:n.665A>G
NM_172201.2:c.178T>C MANE Select NP_751951.1:p.Phe60Leu
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