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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:
CA2147300721
Gene: EIF2B2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.75009042_75009045delinsGAGA , CM000676.2:g.75009042_75009045delinsGAGA
GRCh38
NC_000014.8:g.75475745_75475748delinsGAGA , CM000676.1:g.75475745_75475748delinsGAGA
GRCh37
NC_000014.7:g.74545498_74545501delinsGAGA
NCBI36
NG_013333.1:g.11134_11137delinsGAGA
Transcript Alleles
HGVS
Amino-acid change
ENST00000266126.10:c.910_913delinsGAGA
MANE Select
ENSP00000266126.5:p.Glu304=
ENST00000266126.9:c.910_913delinsGAGA
ENSP00000266126.5:p.Glu304=
ENST00000556668.1:n.490_493delinsGAGA
NM_014239.3:c.910_913delinsGAGA
NP_055054.1:p.Glu304=
NM_014239.4:c.910_913delinsGAGA
MANE Select
NP_055054.1:p.Glu304=
Search 100 bp 5'
Search 100 bp 3'