Canonical Allele Identifier: CA2624726673

Gene: MGAT2

Linked Data

• gnomAD v4: 14-49621645-ACCGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49621648_49621651del , CM000676.2:g.49621648_49621651del	GRCh38
NC_000014.8:g.50088366_50088369del , CM000676.1:g.50088366_50088369del	GRCh37
NC_000014.7:g.49158116_49158119del	NCBI36
NG_008920.1:g.5878_5881del
NG_033054.1:g.3983_3986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305386.4:c.380_383del MANE Select	ENSP00000307423.2:p.Arg127ProfsTer?
ENST00000305386.3:c.380_383del	ENSP00000307423.2:p.Arg127ProfsTer?
NM_002408.3:c.380_383del	NP_002399.1:p.Arg127ProfsTer?
NM_002408.4:c.380_383del MANE Select	NP_002399.1:p.Arg127ProfsTer?