Canonical Allele Identifier: CA10013421
Gene: KCNE2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.34370656T>A
GRCh37 chr21:g.35742955T>A
Revel Score:
ENST00000290310 (MANE Select) 0.872
gnomAD v2:
21:35742955 T / A
gnomAD v3:
21:34370656 T / A
gnomAD v4:
chr21-34370656-T-A
Joint Max Group AF 0.00001063 (AFR)
Genomes Max Group AF 0.00000799 (AFR)
ClinVar RCV:
RCV001142017
RCV001142018
ClinVar Variation:
898248
dbSNP:
16991654
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.178T>A MANE Select ENSP00000290310.2:p.Phe60Ile
ENST00000290310.3:c.178T>A ENSP00000290310.2:p.Phe60Ile
NM_172201.1:c.178T>A , LRG_291t1:c.178T>A NP_751951.1:p.Phe60Ile
XR_937683.1:n.665A>T
XR_937684.1:n.665A>T
XR_001755012.2:n.786A>T
XR_001755013.2:n.665A>T
XR_937683.2:n.665A>T
NM_172201.2:c.178T>A MANE Select NP_751951.1:p.Phe60Ile
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