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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:
CA389619500
Gene: MGAT2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr14:g.50088579G>T (hg19)
chr14:g.49621861G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.49621861G>T , CM000676.2:g.49621861G>T
GRCh38
NC_000014.8:g.50088579G>T , CM000676.1:g.50088579G>T
GRCh37
NC_000014.7:g.49158329G>T
NCBI36
NG_008920.1:g.6091G>T
NG_033054.1:g.3771C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000305386.4:c.593G>T
MANE Select
ENSP00000307423.2:p.Arg198Ile
ENST00000305386.3:c.593G>T
ENSP00000307423.2:p.Arg198Ile
NM_002408.3:c.593G>T
NP_002399.1:p.Arg198Ile
NM_002408.4:c.593G>T
MANE Select
NP_002399.1:p.Arg198Ile
Search 100 bp 5'
Search 100 bp 3'