Canonical Allele Identifier: CA913190931

Gene: MGAT2

Linked Data

• ClinVar Variation Id: 617657
• ClinVar RCV Id: RCV000754822
• dbSNP Id: rs1566504935

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49622021dup , CM000676.2:g.49622021dup	GRCh38
NC_000014.8:g.50088739dup , CM000676.1:g.50088739dup	GRCh37
NC_000014.7:g.49158489dup	NCBI36
NG_008920.1:g.6251dup
NG_033054.1:g.3611dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305386.4:c.753dup MANE Select	ENSP00000307423.2:p.Ala252CysfsTer?
ENST00000305386.3:c.753dup	ENSP00000307423.2:p.Ala252CysfsTer?
NM_002408.3:c.753dup	NP_002399.1:p.Ala252CysfsTer?
NM_002408.4:c.753dup MANE Select	NP_002399.1:p.Ala252CysfsTer?