Canonical Allele Identifier: CA10013417
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2038256
ClinVar RCV Id: RCV002890603 RCV004065980
dbSNP Id: rs756730160
ExAC: 21:35742937 A / ATGG
gnomAD v2: 21-35742937-A-ATGG
gnomAD v4: 21-34370638-A-ATGG
MyVariant Identifiers: chr21:g.35742937_35742938insTGG (hg19) chr21:g.34370638_34370639insTGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370641_34370643dup , CM000683.2:g.34370641_34370643dup GRCh38
NC_000021.8:g.35742940_35742942dup , CM000683.1:g.35742940_35742942dup GRCh37
NC_000021.7:g.34664810_34664812dup NCBI36
NG_008804.1:g.11618_11620dup , LRG_291:g.11618_11620dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.163_165dup MANE Select ENSP00000290310.2:p.Val55_Met56insVal
ENST00000290310.3:c.163_165dup ENSP00000290310.2:p.Val55_Met56insVal
NM_172201.1:c.163_165dup , LRG_291t1:c.163_165dup NP_751951.1:p.Val55_Met56insVal
XR_937683.1:n.680_682dup
XR_937684.1:n.680_682dup
XR_001755012.2:n.801_803dup
XR_001755013.2:n.680_682dup
XR_937683.2:n.680_682dup
NM_172201.2:c.163_165dup MANE Select NP_751951.1:p.Val55_Met56insVal
Search 100 bp 5'
Search 100 bp 3'