Canonical Allele Identifier: CA389618947
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621694G>T , CM000676.2:g.49621694G>T GRCh38
NC_000014.8:g.50088412G>T , CM000676.1:g.50088412G>T GRCh37
NC_000014.7:g.49158162G>T NCBI36
NG_008920.1:g.5924G>T
NG_033054.1:g.3938C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.426G>T MANE Select ENSP00000307423.2:p.Gln142His
ENST00000305386.3:c.426G>T ENSP00000307423.2:p.Gln142His
NM_002408.3:c.426G>T NP_002399.1:p.Gln142His
NM_002408.4:c.426G>T MANE Select NP_002399.1:p.Gln142His