Canonical Allele Identifier: CA389620733
Gene: MGAT2 HGNC NCBI

Linked Data

gnomAD v4: 14-49622116-G-T
MyVariant Identifiers: chr14:g.50088834G>T (hg19) chr14:g.49622116G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622116G>T , CM000676.2:g.49622116G>T GRCh38
NC_000014.8:g.50088834G>T , CM000676.1:g.50088834G>T GRCh37
NC_000014.7:g.49158584G>T NCBI36
NG_008920.1:g.6346G>T
NG_033054.1:g.3516C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.848G>T MANE Select ENSP00000307423.2:p.Cys283Phe
ENST00000305386.3:c.848G>T ENSP00000307423.2:p.Cys283Phe
NM_002408.3:c.848G>T NP_002399.1:p.Cys283Phe
NM_002408.4:c.848G>T MANE Select NP_002399.1:p.Cys283Phe
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