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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:
CA400859474
Gene: KCNJ2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr17:g.68171187A>C (hg19)
chr17:g.70175046A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.70175046A>C , CM000679.2:g.70175046A>C
GRCh38
NC_000017.10:g.68171187A>C , CM000679.1:g.68171187A>C
GRCh37
NC_000017.9:g.65682782A>C
NCBI36
NG_008798.1:g.10512A>C , LRG_328:g.10512A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000243457.4:c.7A>C
MANE Select
ENSP00000243457.2:p.Ser3Arg
ENST00000243457.3:c.7A>C
ENSP00000243457.2:p.Ser3Arg
ENST00000535240.1:c.7A>C
ENSP00000441848.1:p.Ser3Arg
NM_000891.2:c.7A>C , LRG_328t1:c.7A>C
NP_000882.1:p.Ser3Arg
XM_011524779.1:c.7A>C
XP_011523081.1:p.Ser3Arg
NM_000891.3:c.7A>C
MANE Select
NP_000882.1:p.Ser3Arg
Search 100 bp 5'
Search 100 bp 3'