Canonical Allele Identifier: CA2135804754
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1882867561

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621954_49621957del , CM000676.2:g.49621954_49621957del GRCh38
NC_000014.8:g.50088672_50088675del , CM000676.1:g.50088672_50088675del GRCh37
NC_000014.7:g.49158422_49158425del NCBI36
NG_008920.1:g.6184_6187del
NG_033054.1:g.3676_3679del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.686_689del MANE Select ENSP00000307423.2:p.Gln229ProfsTer16
ENST00000305386.3:c.686_689del ENSP00000307423.2:p.Gln229ProfsTer16
NM_002408.3:c.686_689del NP_002399.1:p.Gln229ProfsTer16
NM_002408.4:c.686_689del MANE Select NP_002399.1:p.Gln229ProfsTer16