Canonical Allele Identifier: CA389619506
Gene: MGAT2 HGNC NCBI

Linked Data

gnomAD v4: 14-49621863-G-T
MyVariant Identifiers: chr14:g.50088581G>T (hg19) chr14:g.49621863G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621863G>T , CM000676.2:g.49621863G>T GRCh38
NC_000014.8:g.50088581G>T , CM000676.1:g.50088581G>T GRCh37
NC_000014.7:g.49158331G>T NCBI36
NG_008920.1:g.6093G>T
NG_033054.1:g.3769C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.595G>T MANE Select ENSP00000307423.2:p.Asp199Tyr
ENST00000305386.3:c.595G>T ENSP00000307423.2:p.Asp199Tyr
NM_002408.3:c.595G>T NP_002399.1:p.Asp199Tyr
NM_002408.4:c.595G>T MANE Select NP_002399.1:p.Asp199Tyr
Search 100 bp 5'
Search 100 bp 3'