Canonical Allele Identifier: CA260660804
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1943697
ClinVar RCV Id: RCV002650584
dbSNP Id: rs983735733
MyVariant Identifiers: chr14:g.50088834G>A (hg19) chr14:g.49622116G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622116G>A , CM000676.2:g.49622116G>A GRCh38
NC_000014.8:g.50088834G>A , CM000676.1:g.50088834G>A GRCh37
NC_000014.7:g.49158584G>A NCBI36
NG_008920.1:g.6346G>A
NG_033054.1:g.3516C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.848G>A MANE Select ENSP00000307423.2:p.Cys283Tyr
ENST00000305386.3:c.848G>A ENSP00000307423.2:p.Cys283Tyr
NM_002408.3:c.848G>A NP_002399.1:p.Cys283Tyr
NM_002408.4:c.848G>A MANE Select NP_002399.1:p.Cys283Tyr
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