Canonical Allele Identifier: CA145055
Gene: KCNE2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.34370747A>G
GRCh37 chr21:g.35743046A>G
Revel Score:
ENST00000290310 (MANE Select) 0.259
ClinVar Allele:
78513
ClinVar RCV:
RCV000058371
ClinVar Variation:
67617
dbSNP:
199473366
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370747A>G , CM000683.2:g.34370747A>G GRCh38
NC_000021.8:g.35743046A>G , CM000683.1:g.35743046A>G GRCh37
NC_000021.7:g.34664916A>G NCBI36
NG_008804.1:g.11724A>G , LRG_291:g.11724A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.269A>G MANE Select ENSP00000290310.2:p.Glu90Gly
ENST00000290310.3:c.269A>G ENSP00000290310.2:p.Glu90Gly
NM_172201.1:c.269A>G , LRG_291t1:c.269A>G NP_751951.1:p.Glu90Gly
XR_937683.1:n.574T>C
XR_937684.1:n.574T>C
XR_001755012.2:n.695T>C
XR_001755013.2:n.574T>C
XR_937683.2:n.574T>C
NM_172201.2:c.269A>G MANE Select NP_751951.1:p.Glu90Gly
Search 100 bp 5'
Search 100 bp 3'