Canonical Allele Identifier: CA389620151
Gene: MGAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.50088711G>T (hg19) chr14:g.49621993G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621993G>T , CM000676.2:g.49621993G>T GRCh38
NC_000014.8:g.50088711G>T , CM000676.1:g.50088711G>T GRCh37
NC_000014.7:g.49158461G>T NCBI36
NG_008920.1:g.6223G>T
NG_033054.1:g.3639C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.725G>T MANE Select ENSP00000307423.2:p.Trp242Leu
ENST00000305386.3:c.725G>T ENSP00000307423.2:p.Trp242Leu
NM_002408.3:c.725G>T NP_002399.1:p.Trp242Leu
NM_002408.4:c.725G>T MANE Select NP_002399.1:p.Trp242Leu
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