×
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:
CA320365726
Gene: KCNE2
HGNC
NCBI
Linked Data
dbSNP Id:
rs867563620
MyVariant Identifiers:
chr21:g.35743133T>C (hg19)
chr21:g.34370834T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.34370834T>C , CM000683.2:g.34370834T>C
GRCh38
NC_000021.8:g.35743133T>C , CM000683.1:g.35743133T>C
GRCh37
NC_000021.7:g.34665003T>C
NCBI36
NG_008804.1:g.11811T>C , LRG_291:g.11811T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000290310.4:c.356T>C
MANE Select
ENSP00000290310.2:p.Phe119Ser
ENST00000290310.3:c.356T>C
ENSP00000290310.2:p.Phe119Ser
NM_172201.1:c.356T>C , LRG_291t1:c.356T>C
NP_751951.1:p.Phe119Ser
XR_937683.1:n.487A>G
XR_937684.1:n.487A>G
XR_001755012.2:n.608A>G
XR_001755013.2:n.487A>G
XR_937683.2:n.487A>G
NM_172201.2:c.356T>C
MANE Select
NP_751951.1:p.Phe119Ser
Search 100 bp 5'
Search 100 bp 3'