Canonical Allele Identifier: CA7172653

Gene: MGAT2

Linked Data

• ClinVar Variation Id: 313258
• ClinVar RCV Id: RCV000406511 ; RCV000607723 ; RCV001111658
• dbSNP Id: rs563513161
• ExAC: 14:50089219 A / T
• gnomAD v2: 14-50089219-A-T
• gnomAD v3: 14-49622501-A-T
• gnomAD v4: 14-49622501-A-T
• MyVariant Identifiers: chr14:g.50089219A>T (hg19) ; chr14:g.49622501A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49622501A>T , CM000676.2:g.49622501A>T	GRCh38
NC_000014.8:g.50089219A>T , CM000676.1:g.50089219A>T	GRCh37
NC_000014.7:g.49158969A>T	NCBI36
NG_008920.1:g.6731A>T
NG_033054.1:g.3131T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305386.4:c.1233A>T MANE Select	ENSP00000307423.2:p.Leu411=
ENST00000305386.3:c.1233A>T	ENSP00000307423.2:p.Leu411=
NM_002408.3:c.1233A>T	NP_002399.1:p.Leu411=
NM_002408.4:c.1233A>T MANE Select	NP_002399.1:p.Leu411=