Canonical Allele Identifier: CA389619495
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1318755521
gnomAD v4: 14-49621858-C-G
MyVariant Identifiers: chr14:g.50088576C>G (hg19) chr14:g.49621858C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621858C>G , CM000676.2:g.49621858C>G GRCh38
NC_000014.8:g.50088576C>G , CM000676.1:g.50088576C>G GRCh37
NC_000014.7:g.49158326C>G NCBI36
NG_008920.1:g.6088C>G
NG_033054.1:g.3774G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.590C>G MANE Select ENSP00000307423.2:p.Pro197Arg
ENST00000305386.3:c.590C>G ENSP00000307423.2:p.Pro197Arg
NM_002408.3:c.590C>G NP_002399.1:p.Pro197Arg
NM_002408.4:c.590C>G MANE Select NP_002399.1:p.Pro197Arg
Search 100 bp 5'
Search 100 bp 3'