Canonical Allele Identifier: CA254036
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 6989
ClinVar RCV Id: RCV000007405
dbSNP Id: rs104894446

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622137C>T , CM000676.2:g.49622137C>T GRCh38
NC_000014.8:g.50088855C>T , CM000676.1:g.50088855C>T GRCh37
NC_000014.7:g.49158605C>T NCBI36
NG_008920.1:g.6367C>T
NG_033054.1:g.3495G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.869C>T MANE Select ENSP00000307423.2:p.Ser290Phe
ENST00000305386.3:c.869C>T ENSP00000307423.2:p.Ser290Phe
NM_002408.3:c.869C>T NP_002399.1:p.Ser290Phe
NM_002408.4:c.869C>T MANE Select NP_002399.1:p.Ser290Phe