Canonical Allele Identifier: CA389620492

Gene: MGAT2

Linked Data

• dbSNP Id: rs1329543814
• gnomAD v2: 14-50088780-C-T
• gnomAD v4: 14-49622062-C-T
• MyVariant Identifiers: chr14:g.50088780C>T (hg19) ; chr14:g.49622062C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49622062C>T , CM000676.2:g.49622062C>T	GRCh38
NC_000014.8:g.50088780C>T , CM000676.1:g.50088780C>T	GRCh37
NC_000014.7:g.49158530C>T	NCBI36
NG_008920.1:g.6292C>T
NG_033054.1:g.3570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305386.4:c.794C>T MANE Select	ENSP00000307423.2:p.Ala265Val
ENST00000305386.3:c.794C>T	ENSP00000307423.2:p.Ala265Val
NM_002408.3:c.794C>T	NP_002399.1:p.Ala265Val
NM_002408.4:c.794C>T MANE Select	NP_002399.1:p.Ala265Val