Canonical Allele Identifier: CA7172457

Gene: MGAT2

Linked Data

• ClinVar Variation Id: 313254
• ClinVar RCV Id: RCV000426874 ; RCV000872103 ; RCV003930338
• dbSNP Id: rs146729850
• ExAC: 14:50088049 C / T
• gnomAD v2: 14-50088049-C-T
• gnomAD v3: 14-49621331-C-T
• gnomAD v4: 14-49621331-C-T
• MyVariant Identifiers: chr14:g.50088049C>T (hg19) ; chr14:g.49621331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49621331C>T , CM000676.2:g.49621331C>T	GRCh38
NC_000014.8:g.50088049C>T , CM000676.1:g.50088049C>T	GRCh37
NC_000014.7:g.49157799C>T	NCBI36
NG_008920.1:g.5561C>T
NG_033054.1:g.4301G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305386.4:c.63C>T MANE Select	ENSP00000307423.2:p.Gly21=
ENST00000305386.3:c.63C>T	ENSP00000307423.2:p.Gly21=
NM_002408.3:c.63C>T	NP_002399.1:p.Gly21=
NM_002408.4:c.63C>T MANE Select	NP_002399.1:p.Gly21=