Canonical Allele Identifier: CA389619327
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621783T>A , CM000676.2:g.49621783T>A GRCh38
NC_000014.8:g.50088501T>A , CM000676.1:g.50088501T>A GRCh37
NC_000014.7:g.49158251T>A NCBI36
NG_008920.1:g.6013T>A
NG_033054.1:g.3849A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.515T>A MANE Select ENSP00000307423.2:p.Val172Asp
ENST00000305386.3:c.515T>A ENSP00000307423.2:p.Val172Asp
NM_002408.3:c.515T>A NP_002399.1:p.Val172Asp
NM_002408.4:c.515T>A MANE Select NP_002399.1:p.Val172Asp