Canonical Allele Identifier: CA389621137
Gene: MGAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.50088935C>T (hg19) chr14:g.49622217C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622217C>T , CM000676.2:g.49622217C>T GRCh38
NC_000014.8:g.50088935C>T , CM000676.1:g.50088935C>T GRCh37
NC_000014.7:g.49158685C>T NCBI36
NG_008920.1:g.6447C>T
NG_033054.1:g.3415G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.949C>T MANE Select ENSP00000307423.2:p.His317Tyr
ENST00000305386.3:c.949C>T ENSP00000307423.2:p.His317Tyr
NM_002408.3:c.949C>T NP_002399.1:p.His317Tyr
NM_002408.4:c.949C>T MANE Select NP_002399.1:p.His317Tyr
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