Canonical Allele Identifier: CA2832562020
Gene: MGAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621854_49621857dup , CM000676.2:g.49621854_49621857dup GRCh38
NC_000014.8:g.50088572_50088575dup , CM000676.1:g.50088572_50088575dup GRCh37
NC_000014.7:g.49158322_49158325dup NCBI36
NG_008920.1:g.6084_6087dup
NG_033054.1:g.3775_3778dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.586_589dup MANE Select ENSP00000307423.2:p.Pro197LeufsTer19
ENST00000305386.3:c.586_589dup ENSP00000307423.2:p.Pro197LeufsTer19
NM_002408.3:c.586_589dup NP_002399.1:p.Pro197LeufsTer19
NM_002408.4:c.586_589dup MANE Select NP_002399.1:p.Pro197LeufsTer19