Canonical Allele Identifier: CA389620194
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622002T>A , CM000676.2:g.49622002T>A GRCh38
NC_000014.8:g.50088720T>A , CM000676.1:g.50088720T>A GRCh37
NC_000014.7:g.49158470T>A NCBI36
NG_008920.1:g.6232T>A
NG_033054.1:g.3630A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.734T>A MANE Select ENSP00000307423.2:p.Val245Glu
ENST00000305386.3:c.734T>A ENSP00000307423.2:p.Val245Glu
NM_002408.3:c.734T>A NP_002399.1:p.Val245Glu
NM_002408.4:c.734T>A MANE Select NP_002399.1:p.Val245Glu