Canonical Allele Identifier: CA2801518199
Gene: MGAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621782del , CM000676.2:g.49621782del GRCh38
NC_000014.8:g.50088500del , CM000676.1:g.50088500del GRCh37
NC_000014.7:g.49158250del NCBI36
NG_008920.1:g.6012del
NG_033054.1:g.3851del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.514del MANE Select ENSP00000307423.2:p.Val172PhefsTer?
ENST00000305386.3:c.514del ENSP00000307423.2:p.Val172PhefsTer?
NM_002408.3:c.514del NP_002399.1:p.Val172PhefsTer?
NM_002408.4:c.514del MANE Select NP_002399.1:p.Val172PhefsTer?