Canonical Allele Identifier: CA389619512
Gene: MGAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.50088584C>G (hg19) chr14:g.49621866C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621866C>G , CM000676.2:g.49621866C>G GRCh38
NC_000014.8:g.50088584C>G , CM000676.1:g.50088584C>G GRCh37
NC_000014.7:g.49158334C>G NCBI36
NG_008920.1:g.6096C>G
NG_033054.1:g.3766G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.598C>G MANE Select ENSP00000307423.2:p.Leu200Val
ENST00000305386.3:c.598C>G ENSP00000307423.2:p.Leu200Val
NM_002408.3:c.598C>G NP_002399.1:p.Leu200Val
NM_002408.4:c.598C>G MANE Select NP_002399.1:p.Leu200Val
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