Canonical Allele Identifier: CA389619401
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1420403170
gnomAD v2: 14-50088535-G-T
gnomAD v3: 14-49621817-G-T
gnomAD v4: 14-49621817-G-T
MyVariant Identifiers: chr14:g.50088535G>T (hg19) chr14:g.49621817G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621817G>T , CM000676.2:g.49621817G>T GRCh38
NC_000014.8:g.50088535G>T , CM000676.1:g.50088535G>T GRCh37
NC_000014.7:g.49158285G>T NCBI36
NG_008920.1:g.6047G>T
NG_033054.1:g.3815C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.549G>T MANE Select ENSP00000307423.2:p.Leu183Phe
ENST00000305386.3:c.549G>T ENSP00000307423.2:p.Leu183Phe
NM_002408.3:c.549G>T NP_002399.1:p.Leu183Phe
NM_002408.4:c.549G>T MANE Select NP_002399.1:p.Leu183Phe
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