ClinGen Allele Registry
Allele Registry
Pathogenicity Calculator
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA410196244
Gene: KCNE2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr21:g.35742860A>C (hg19)
chr21:g.34370561A>C (hg38)
Calculator
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.34370561A>C , CM000683.2:g.34370561A>C
GRCh38
NC_000021.8:g.35742860A>C , CM000683.1:g.35742860A>C
GRCh37
NC_000021.7:g.34664730A>C
NCBI36
NG_008804.1:g.11538A>C , LRG_291:g.11538A>C
Transcript Alleles
HGVS
Amino-acid change
NM_172201.1:c.83A>C , LRG_291t1:c.83A>C
NP_751951.1:p.Gln28Pro
XR_937683.1:n.760T>G
XR_937684.1:n.760T>G
XR_001755012.2:n.881T>G
XR_001755013.2:n.760T>G
XR_937683.2:n.760T>G
NM_172201.2:c.83A>C
NP_751951.1:p.Gln28Pro
ENST00000290310.3:c.83A>C
ENSP00000290310.2:p.Gln28Pro
Search 100 bp 5'
Search 100 bp 3'