Canonical Allele Identifier: CA389619979
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621968T>C , CM000676.2:g.49621968T>C GRCh38
NC_000014.8:g.50088686T>C , CM000676.1:g.50088686T>C GRCh37
NC_000014.7:g.49158436T>C NCBI36
NG_008920.1:g.6198T>C
NG_033054.1:g.3664A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.700T>C MANE Select ENSP00000307423.2:p.Trp234Arg
ENST00000305386.3:c.700T>C ENSP00000307423.2:p.Trp234Arg
NM_002408.3:c.700T>C NP_002399.1:p.Trp234Arg
NM_002408.4:c.700T>C MANE Select NP_002399.1:p.Trp234Arg