Canonical Allele Identifier: CA486349886
Gene: MGAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.50088748T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622030T>A , CM000676.2:g.49622030T>A GRCh38
NC_000014.8:g.50088748T>A , CM000676.1:g.50088748T>A GRCh37
NC_000014.7:g.49158498T>A NCBI36
NG_008920.1:g.6260T>A
NG_033054.1:g.3602A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.762T>A MANE Select ENSP00000307423.2:p.Leu254=
ENST00000305386.3:c.762T>A ENSP00000307423.2:p.Leu254=
NM_002408.3:c.762T>A NP_002399.1:p.Leu254=
NM_002408.4:c.762T>A MANE Select NP_002399.1:p.Leu254=