Canonical Allele Identifier: CA389619493
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621857C>A , CM000676.2:g.49621857C>A GRCh38
NC_000014.8:g.50088575C>A , CM000676.1:g.50088575C>A GRCh37
NC_000014.7:g.49158325C>A NCBI36
NG_008920.1:g.6087C>A
NG_033054.1:g.3775G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000305386.4:c.589C>A MANE Select ENSP00000307423.2:p.Pro197Thr
ENST00000305386.3:c.589C>A ENSP00000307423.2:p.Pro197Thr
NM_002408.3:c.589C>A NP_002399.1:p.Pro197Thr
NM_002408.4:c.589C>A MANE Select NP_002399.1:p.Pro197Thr