Canonical Allele Identifier: CA2135804483
Gene: MGAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621672_49621674delinsTGG , CM000676.2:g.49621672_49621674delinsTGG GRCh38
NC_000014.8:g.50088390_50088392delinsTGG , CM000676.1:g.50088390_50088392delinsTGG GRCh37
NC_000014.7:g.49158140_49158142delinsTGG NCBI36
NG_008920.1:g.5902_5904delinsTGG
NG_033054.1:g.3958_3960delinsCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.404_406delinsTGG MANE Select ENSP00000307423.2:p.Leu135=
ENST00000305386.3:c.404_406delinsTGG ENSP00000307423.2:p.Leu135=
NM_002408.3:c.404_406delinsTGG NP_002399.1:p.Leu135=
NM_002408.4:c.404_406delinsTGG MANE Select NP_002399.1:p.Leu135=