Canonical Allele Identifier: CA389618967
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621699T>C , CM000676.2:g.49621699T>C GRCh38
NC_000014.8:g.50088417T>C , CM000676.1:g.50088417T>C GRCh37
NC_000014.7:g.49158167T>C NCBI36
NG_008920.1:g.5929T>C
NG_033054.1:g.3933A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.431T>C MANE Select ENSP00000307423.2:p.Ile144Thr
ENST00000305386.3:c.431T>C ENSP00000307423.2:p.Ile144Thr
NM_002408.3:c.431T>C NP_002399.1:p.Ile144Thr
NM_002408.4:c.431T>C MANE Select NP_002399.1:p.Ile144Thr