Canonical Allele Identifier: CA389620226
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622007A>T , CM000676.2:g.49622007A>T GRCh38
NC_000014.8:g.50088725A>T , CM000676.1:g.50088725A>T GRCh37
NC_000014.7:g.49158475A>T NCBI36
NG_008920.1:g.6237A>T
NG_033054.1:g.3625T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.739A>T MANE Select ENSP00000307423.2:p.Ile247Phe
ENST00000305386.3:c.739A>T ENSP00000307423.2:p.Ile247Phe
NM_002408.3:c.739A>T NP_002399.1:p.Ile247Phe
NM_002408.4:c.739A>T MANE Select NP_002399.1:p.Ile247Phe