Canonical Allele Identifier: CA117924
Gene: KCNE2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.34370557C>T
GRCh37 chr21:g.35742856C>T
Revel Score:
ENST00000290310 (MANE Select) 0.869
gnomAD v2:
21:35742856 C / T
gnomAD v3:
21:34370557 C / T
gnomAD v4:
chr21-34370557-C-T
Joint Max Group AF 0.00076963 (EAS)
Genomes Max Group AF 0.0003788 (EAS)
Exomes Max Group AF 0.00075975 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370557C>T , CM000683.2:g.34370557C>T GRCh38
NC_000021.8:g.35742856C>T , CM000683.1:g.35742856C>T GRCh37
NC_000021.7:g.34664726C>T NCBI36
NG_008804.1:g.11534C>T , LRG_291:g.11534C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.79C>T MANE Select ENSP00000290310.2:p.Arg27Cys
ENST00000290310.3:c.79C>T ENSP00000290310.2:p.Arg27Cys
NM_172201.1:c.79C>T , LRG_291t1:c.79C>T NP_751951.1:p.Arg27Cys
XR_937683.1:n.764G>A
XR_937684.1:n.764G>A
XR_001755012.2:n.885G>A
XR_001755013.2:n.764G>A
XR_937683.2:n.764G>A
NM_172201.2:c.79C>T MANE Select NP_751951.1:p.Arg27Cys
Search 100 bp 5'
Search 100 bp 3'