Canonical Allele Identifier: CA389619224
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1419806515
gnomAD v2: 14-50088476-A-G
gnomAD v4: 14-49621758-A-G
MyVariant Identifiers: chr14:g.50088476A>G (hg19) chr14:g.49621758A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621758A>G , CM000676.2:g.49621758A>G GRCh38
NC_000014.8:g.50088476A>G , CM000676.1:g.50088476A>G GRCh37
NC_000014.7:g.49158226A>G NCBI36
NG_008920.1:g.5988A>G
NG_033054.1:g.3874T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.490A>G MANE Select ENSP00000307423.2:p.Ile164Val
ENST00000305386.3:c.490A>G ENSP00000307423.2:p.Ile164Val
NM_002408.3:c.490A>G NP_002399.1:p.Ile164Val
NM_002408.4:c.490A>G MANE Select NP_002399.1:p.Ile164Val
Search 100 bp 5'
Search 100 bp 3'