Canonical Allele Identifier: CA2624726691
Gene: MGAT2 HGNC NCBI

Linked Data

gnomAD v4: 14-49622140-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622144del , CM000676.2:g.49622144del GRCh38
NC_000014.8:g.50088862del , CM000676.1:g.50088862del GRCh37
NC_000014.7:g.49158612del NCBI36
NG_008920.1:g.6374del
NG_033054.1:g.3491del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.876del MANE Select ENSP00000307423.2:p.Thr293ProfsTer15
ENST00000305386.3:c.876del ENSP00000307423.2:p.Thr293ProfsTer15
NM_002408.3:c.876del NP_002399.1:p.Thr293ProfsTer15
NM_002408.4:c.876del MANE Select NP_002399.1:p.Thr293ProfsTer15
Search 100 bp 5'
Search 100 bp 3'