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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:
CA2194780824
Gene: MESP2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.89776669G= , CM000677.2:g.89776669G=
GRCh38
NC_000015.9:g.90319900G= , CM000677.1:g.90319900G=
GRCh37
NC_000015.8:g.88120904G=
NCBI36
NG_008608.1:g.5312G=
NG_008608.2:g.21079G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000341735.5:c.312G=
MANE Select
ENSP00000342392.3:p.Leu104=
ENST00000341735.3:c.312G=
ENSP00000342392.3:p.Leu104=
ENST00000558723.1:n.39-1396G=
ENST00000560219.2:c.31-1396G=
ENSP00000452998.1:n.31-1396G=
NM_001039958.1:c.312G=
NP_001035047.1:p.Leu104=
NM_001039958.2:c.312G=
MANE Select
NP_001035047.1:p.Leu104=
Search 100 bp 5'
Search 100 bp 3'