Canonical Allele Identifier: CA2135804824
Gene: MGAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622139C= , CM000676.2:g.49622139C= GRCh38
NC_000014.8:g.50088857C= , CM000676.1:g.50088857C= GRCh37
NC_000014.7:g.49158607C= NCBI36
NG_008920.1:g.6369C=
NG_033054.1:g.3493G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.871C= MANE Select ENSP00000307423.2:p.Leu291=
ENST00000305386.3:c.871C= ENSP00000307423.2:p.Leu291=
NM_002408.3:c.871C= NP_002399.1:p.Leu291=
NM_002408.4:c.871C= MANE Select NP_002399.1:p.Leu291=