Canonical Allele Identifier: CA218805
Gene: KCNE2 HGNC NCBI
COSMIC:
COSM4985808 (not active)
MyVariant.info:
GRCh38 chr21:g.34370648T>C
GRCh37 chr21:g.35742947T>C
Revel Score:
ENST00000290310 (MANE Select) 0.863
gnomAD v2:
21:35742947 T / C
gnomAD v3:
21:34370648 T / C
gnomAD v4:
chr21-34370648-T-C
Joint Max Group AF 0.01252021 (MID)
Genomes Max Group AF 0.00202907 (AMR)
Exomes Max Group AF 0.01205133 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370648T>C , CM000683.2:g.34370648T>C GRCh38
NC_000021.8:g.35742947T>C , CM000683.1:g.35742947T>C GRCh37
NC_000021.7:g.34664817T>C NCBI36
NG_008804.1:g.11625T>C , LRG_291:g.11625T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.170T>C MANE Select ENSP00000290310.2:p.Ile57Thr
ENST00000290310.3:c.170T>C ENSP00000290310.2:p.Ile57Thr
NM_172201.1:c.170T>C , LRG_291t1:c.170T>C NP_751951.1:p.Ile57Thr
XR_937683.1:n.673A>G
XR_937684.1:n.673A>G
XR_001755012.2:n.794A>G
XR_001755013.2:n.673A>G
XR_937683.2:n.673A>G
NM_172201.2:c.170T>C MANE Select NP_751951.1:p.Ile57Thr
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