×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA645619097
Gene: KCNE2
HGNC
NCBI
Linked Data
COSMIC:
COSM5953921
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.34370507del , CM000683.2:g.34370507del
GRCh38
NC_000021.8:g.35742806del , CM000683.1:g.35742806del
GRCh37
NC_000021.7:g.34664676del
NCBI36
NG_008804.1:g.11484del , LRG_291:g.11484del
Transcript Alleles
HGVS
Amino-acid change
ENST00000290310.4:c.29del
MANE Select
ENSP00000290310.2:p.Thr10SerfsTer?
ENST00000290310.3:c.29del
ENSP00000290310.2:p.Thr10SerfsTer?
NM_172201.1:c.29del , LRG_291t1:c.29del
NP_751951.1:p.Thr10SerfsTer?
XR_937683.1:n.814del
XR_937684.1:n.814del
XR_001755012.2:n.935del
XR_001755013.2:n.814del
XR_937683.2:n.814del
NM_172201.2:c.29del
MANE Select
NP_751951.1:p.Thr10SerfsTer?
Search 100 bp 5'
Search 100 bp 3'