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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:
CA2135804650
Gene: MGAT2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.49621794_49621796delinsTTC , CM000676.2:g.49621794_49621796delinsTTC
GRCh38
NC_000014.8:g.50088512_50088514delinsTTC , CM000676.1:g.50088512_50088514delinsTTC
GRCh37
NC_000014.7:g.49158262_49158264delinsTTC
NCBI36
NG_008920.1:g.6024_6026delinsTTC
NG_033054.1:g.3836_3838delinsGAA
Transcript Alleles
HGVS
Amino-acid change
ENST00000305386.4:c.526_528delinsTTC
MANE Select
ENSP00000307423.2:p.Phe176=
ENST00000305386.3:c.526_528delinsTTC
ENSP00000307423.2:p.Phe176=
NM_002408.3:c.526_528delinsTTC
NP_002399.1:p.Phe176=
NM_002408.4:c.526_528delinsTTC
MANE Select
NP_002399.1:p.Phe176=
Search 100 bp 5'
Search 100 bp 3'