Canonical Allele Identifier: CA389617992
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621615G>C , CM000676.2:g.49621615G>C GRCh38
NC_000014.8:g.50088333G>C , CM000676.1:g.50088333G>C GRCh37
NC_000014.7:g.49158083G>C NCBI36
NG_008920.1:g.5845G>C
NG_033054.1:g.4017C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.347G>C MANE Select ENSP00000307423.2:p.Arg116Pro
ENST00000305386.3:c.347G>C ENSP00000307423.2:p.Arg116Pro
NM_002408.3:c.347G>C NP_002399.1:p.Arg116Pro
NM_002408.4:c.347G>C MANE Select NP_002399.1:p.Arg116Pro