Canonical Allele Identifier: CA2624726688

Gene: MGAT2

Linked Data

• gnomAD v4: 14-49622125-GTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49622128_49622130del , CM000676.2:g.49622128_49622130del	GRCh38
NC_000014.8:g.50088846_50088848del , CM000676.1:g.50088846_50088848del	GRCh37
NC_000014.7:g.49158596_49158598del	NCBI36
NG_008920.1:g.6358_6360del
NG_033054.1:g.3504_3506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305386.4:c.860_862del MANE Select	ENSP00000307423.2:p.Asp287del
ENST00000305386.3:c.860_862del	ENSP00000307423.2:p.Asp287del
NM_002408.3:c.860_862del	NP_002399.1:p.Asp287del
NM_002408.4:c.860_862del MANE Select	NP_002399.1:p.Asp287del