Canonical Allele Identifier: CA389619365
Gene: MGAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.50088519C>A (hg19) chr14:g.49621801C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621801C>A , CM000676.2:g.49621801C>A GRCh38
NC_000014.8:g.50088519C>A , CM000676.1:g.50088519C>A GRCh37
NC_000014.7:g.49158269C>A NCBI36
NG_008920.1:g.6031C>A
NG_033054.1:g.3831G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.533C>A MANE Select ENSP00000307423.2:p.Pro178His
ENST00000305386.3:c.533C>A ENSP00000307423.2:p.Pro178His
NM_002408.3:c.533C>A NP_002399.1:p.Pro178His
NM_002408.4:c.533C>A MANE Select NP_002399.1:p.Pro178His
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