Canonical Allele Identifier: CA7172493

Gene: MGAT2

Linked Data

• ClinVar Variation Id: 2083378
• ClinVar RCV Id: RCV003009103 ; RCV003961351
• dbSNP Id: rs766722078
• ExAC: 14:50088202 G / A
• gnomAD v2: 14-50088202-G-A
• gnomAD v3: 14-49621484-G-A
• gnomAD v4: 14-49621484-G-A
• MyVariant Identifiers: chr14:g.50088202G>A (hg19) ; chr14:g.49621484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49621484G>A , CM000676.2:g.49621484G>A	GRCh38
NC_000014.8:g.50088202G>A , CM000676.1:g.50088202G>A	GRCh37
NC_000014.7:g.49157952G>A	NCBI36
NG_008920.1:g.5714G>A
NG_033054.1:g.4148C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305386.4:c.216G>A MANE Select	ENSP00000307423.2:p.Ala72=
ENST00000305386.3:c.216G>A	ENSP00000307423.2:p.Ala72=
NM_002408.3:c.216G>A	NP_002399.1:p.Ala72=
NM_002408.4:c.216G>A MANE Select	NP_002399.1:p.Ala72=