Canonical Allele Identifier: CA211459
Gene: KCNE2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.34370558G>A
GRCh37 chr21:g.35742857G>A
Revel Score:
ENST00000290310 (MANE Select) 0.764
gnomAD v2:
21:35742857 G / A
gnomAD v3:
21:34370558 G / A
gnomAD v4:
chr21-34370558-G-A
Joint Max Group AF 0.00057778 (AFR)
Genomes Max Group AF 0.0005804 (AFR)
Exomes Max Group AF 0.00044389 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370558G>A , CM000683.2:g.34370558G>A GRCh38
NC_000021.8:g.35742857G>A , CM000683.1:g.35742857G>A GRCh37
NC_000021.7:g.34664727G>A NCBI36
NG_008804.1:g.11535G>A , LRG_291:g.11535G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.80G>A MANE Select ENSP00000290310.2:p.Arg27His
ENST00000290310.3:c.80G>A ENSP00000290310.2:p.Arg27His
NM_172201.1:c.80G>A , LRG_291t1:c.80G>A NP_751951.1:p.Arg27His
XR_937683.1:n.763C>T
XR_937684.1:n.763C>T
XR_001755012.2:n.884C>T
XR_001755013.2:n.763C>T
XR_937683.2:n.763C>T
NM_172201.2:c.80G>A MANE Select NP_751951.1:p.Arg27His
Search 100 bp 5'
Search 100 bp 3'