Canonical Allele Identifier: CA389620616
Gene: MGAT2 HGNC NCBI

Linked Data

gnomAD v4: 14-49622088-A-G
MyVariant Identifiers: chr14:g.50088806A>G (hg19) chr14:g.49622088A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622088A>G , CM000676.2:g.49622088A>G GRCh38
NC_000014.8:g.50088806A>G , CM000676.1:g.50088806A>G GRCh37
NC_000014.7:g.49158556A>G NCBI36
NG_008920.1:g.6318A>G
NG_033054.1:g.3544T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.820A>G MANE Select ENSP00000307423.2:p.Lys274Glu
ENST00000305386.3:c.820A>G ENSP00000307423.2:p.Lys274Glu
NM_002408.3:c.820A>G NP_002399.1:p.Lys274Glu
NM_002408.4:c.820A>G MANE Select NP_002399.1:p.Lys274Glu
Search 100 bp 5'
Search 100 bp 3'