Canonical Allele Identifier: CA389618999
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621706C>A , CM000676.2:g.49621706C>A GRCh38
NC_000014.8:g.50088424C>A , CM000676.1:g.50088424C>A GRCh37
NC_000014.7:g.49158174C>A NCBI36
NG_008920.1:g.5936C>A
NG_033054.1:g.3926G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.438C>A MANE Select ENSP00000307423.2:p.Asn146Lys
ENST00000305386.3:c.438C>A ENSP00000307423.2:p.Asn146Lys
NM_002408.3:c.438C>A NP_002399.1:p.Asn146Lys
NM_002408.4:c.438C>A MANE Select NP_002399.1:p.Asn146Lys