Canonical Allele Identifier: CA389620252
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622010C>G , CM000676.2:g.49622010C>G GRCh38
NC_000014.8:g.50088728C>G , CM000676.1:g.50088728C>G GRCh37
NC_000014.7:g.49158478C>G NCBI36
NG_008920.1:g.6240C>G
NG_033054.1:g.3622G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.742C>G MANE Select ENSP00000307423.2:p.Leu248Val
ENST00000305386.3:c.742C>G ENSP00000307423.2:p.Leu248Val
NM_002408.3:c.742C>G NP_002399.1:p.Leu248Val
NM_002408.4:c.742C>G MANE Select NP_002399.1:p.Leu248Val