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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
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Canonical Allele Identifier:
CA10013404
Gene: KCNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2082091
ClinVar RCV Id:
RCV003007188
dbSNP Id:
rs767031659
ExAC:
21:35742893 C / G
gnomAD v2:
21-35742893-C-G
gnomAD v4:
21-34370594-C-G
MyVariant Identifiers:
chr21:g.35742893C>G (hg19)
chr21:g.34370594C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.34370594C>G , CM000683.2:g.34370594C>G
GRCh38
NC_000021.8:g.35742893C>G , CM000683.1:g.35742893C>G
GRCh37
NC_000021.7:g.34664763C>G
NCBI36
NG_008804.1:g.11571C>G , LRG_291:g.11571C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000290310.4:c.116C>G
MANE Select
ENSP00000290310.2:p.Ala39Gly
ENST00000290310.3:c.116C>G
ENSP00000290310.2:p.Ala39Gly
NM_172201.1:c.116C>G , LRG_291t1:c.116C>G
NP_751951.1:p.Ala39Gly
XR_937683.1:n.727G>C
XR_937684.1:n.727G>C
XR_001755012.2:n.848G>C
XR_001755013.2:n.727G>C
XR_937683.2:n.727G>C
NM_172201.2:c.116C>G
MANE Select
NP_751951.1:p.Ala39Gly
Search 100 bp 5'
Search 100 bp 3'