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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:
CA774607436
Gene: KCNJ2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1400732151
gnomAD v3:
17-70177222-CT-C
gnomAD v4:
17-70177222-CT-C
MyVariant Identifiers:
chr17:g.68173364del (hg19)
chr17:g.70177223del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.70177226del , CM000679.2:g.70177226del
GRCh38
NC_000017.10:g.68173367del , CM000679.1:g.68173367del
GRCh37
NC_000017.9:g.65684962del
NCBI36
NG_008798.1:g.12692del , LRG_328:g.12692del
Transcript Alleles
HGVS
Amino-acid change
ENST00000243457.4:c.*903del
MANE Select
ENSP00000243457.2:n.*903del
ENST00000243457.3:c.*903del
ENSP00000243457.2:n.*903del
NM_000891.2:c.*903del , LRG_328t1:c.*903del
NP_000882.1:n.*903del
XM_011524779.1:c.*903del
XP_011523081.1:n.*903del
NM_000891.3:c.*903del
MANE Select
NP_000882.1:n.*903del
Search 100 bp 5'
Search 100 bp 3'