Canonical Allele Identifier: CA389620387
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622041T>A , CM000676.2:g.49622041T>A GRCh38
NC_000014.8:g.50088759T>A , CM000676.1:g.50088759T>A GRCh37
NC_000014.7:g.49158509T>A NCBI36
NG_008920.1:g.6271T>A
NG_033054.1:g.3591A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.773T>A MANE Select ENSP00000307423.2:p.Leu258Gln
ENST00000305386.3:c.773T>A ENSP00000307423.2:p.Leu258Gln
NM_002408.3:c.773T>A NP_002399.1:p.Leu258Gln
NM_002408.4:c.773T>A MANE Select NP_002399.1:p.Leu258Gln