Canonical Allele Identifier: CA389618854
Gene: MGAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.50088387T>A (hg19) chr14:g.49621669T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621669T>A , CM000676.2:g.49621669T>A GRCh38
NC_000014.8:g.50088387T>A , CM000676.1:g.50088387T>A GRCh37
NC_000014.7:g.49158137T>A NCBI36
NG_008920.1:g.5899T>A
NG_033054.1:g.3963A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.401T>A MANE Select ENSP00000307423.2:p.Leu134Gln
ENST00000305386.3:c.401T>A ENSP00000307423.2:p.Leu134Gln
NM_002408.3:c.401T>A NP_002399.1:p.Leu134Gln
NM_002408.4:c.401T>A MANE Select NP_002399.1:p.Leu134Gln
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