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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:
CA410196092
Gene: KCNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1217300
ClinVar RCV Id:
RCV001582409
RCV001866209
RCV002495950
dbSNP Id:
rs2123423458
MyVariant Identifiers:
chr21:g.35742790T>C (hg19)
chr21:g.34370491T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.34370491T>C , CM000683.2:g.34370491T>C
GRCh38
NC_000021.8:g.35742790T>C , CM000683.1:g.35742790T>C
GRCh37
NC_000021.7:g.34664660T>C
NCBI36
NG_008804.1:g.11468T>C , LRG_291:g.11468T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000290310.4:c.13T>C
MANE Select
ENSP00000290310.2:p.Ser5Pro
ENST00000290310.3:c.13T>C
ENSP00000290310.2:p.Ser5Pro
NM_172201.1:c.13T>C , LRG_291t1:c.13T>C
NP_751951.1:p.Ser5Pro
XR_937683.1:n.830A>G
XR_937684.1:n.830A>G
XR_001755012.2:n.951A>G
XR_001755013.2:n.830A>G
XR_937683.2:n.830A>G
NM_172201.2:c.13T>C
MANE Select
NP_751951.1:p.Ser5Pro
Search 100 bp 5'
Search 100 bp 3'