Canonical Allele Identifier: CA2575517489
Gene: MGAT2 HGNC NCBI

Linked Data

gnomAD v4: 14-49621859-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621863_49621864del , CM000676.2:g.49621863_49621864del GRCh38
NC_000014.8:g.50088581_50088582del , CM000676.1:g.50088581_50088582del GRCh37
NC_000014.7:g.49158331_49158332del NCBI36
NG_008920.1:g.6093_6094del
NG_033054.1:g.3771_3772del

Transcript Alleles

HGVS Amino-acid change
ENST00000305386.4:c.595_596del MANE Select ENSP00000307423.2:p.Asp199ProfsTer15
ENST00000305386.3:c.595_596del ENSP00000307423.2:p.Asp199ProfsTer15
NM_002408.3:c.595_596del NP_002399.1:p.Asp199ProfsTer15
NM_002408.4:c.595_596del MANE Select NP_002399.1:p.Asp199ProfsTer15
Search 100 bp 5'
Search 100 bp 3'