Canonical Allele Identifier: CA389618181
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621650C>T , CM000676.2:g.49621650C>T GRCh38
NC_000014.8:g.50088368C>T , CM000676.1:g.50088368C>T GRCh37
NC_000014.7:g.49158118C>T NCBI36
NG_008920.1:g.5880C>T
NG_033054.1:g.3982G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.382C>T MANE Select ENSP00000307423.2:p.Pro128Ser
ENST00000305386.3:c.382C>T ENSP00000307423.2:p.Pro128Ser
NM_002408.3:c.382C>T NP_002399.1:p.Pro128Ser
NM_002408.4:c.382C>T MANE Select NP_002399.1:p.Pro128Ser