Canonical Allele Identifier: CA486349885
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 680170
dbSNP Id: rs920507248

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621679A>T , CM000676.2:g.49621679A>T GRCh38
NC_000014.8:g.50088397A>T , CM000676.1:g.50088397A>T GRCh37
NC_000014.7:g.49158147A>T NCBI36
NG_008920.1:g.5909A>T
NG_033054.1:g.3953T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.411A>T MANE Select ENSP00000307423.2:p.Ser137=
ENST00000305386.3:c.411A>T ENSP00000307423.2:p.Ser137=
NM_002408.3:c.411A>T NP_002399.1:p.Ser137=
NM_002408.4:c.411A>T MANE Select NP_002399.1:p.Ser137=