Canonical Allele Identifier: CA249931
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 30270
dbSNP Id: rs730882218

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621979G>C , CM000676.2:g.49621979G>C GRCh38
NC_000014.8:g.50088697G>C , CM000676.1:g.50088697G>C GRCh37
NC_000014.7:g.49158447G>C NCBI36
NG_008920.1:g.6209G>C
NG_033054.1:g.3653C>G

Transcript Alleles

HGVS Amino-acid change
NM_002408.3:c.711G>C NP_002399.1:p.Lys237Asn
NM_002408.4:c.711G>C MANE Select NP_002399.1:p.Lys237Asn
ENST00000305386.3:c.711G>C ENSP00000307423.2:p.Lys237Asn