Canonical Allele Identifier: CA389620857
Gene: MGAT2 HGNC NCBI

Linked Data

gnomAD v4: 14-49622146-C-T
MyVariant Identifiers: chr14:g.50088864C>T (hg19) chr14:g.49622146C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622146C>T , CM000676.2:g.49622146C>T GRCh38
NC_000014.8:g.50088864C>T , CM000676.1:g.50088864C>T GRCh37
NC_000014.7:g.49158614C>T NCBI36
NG_008920.1:g.6376C>T
NG_033054.1:g.3486G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.878C>T MANE Select ENSP00000307423.2:p.Thr293Ile
ENST00000305386.3:c.878C>T ENSP00000307423.2:p.Thr293Ile
NM_002408.3:c.878C>T NP_002399.1:p.Thr293Ile
NM_002408.4:c.878C>T MANE Select NP_002399.1:p.Thr293Ile
Search 100 bp 5'
Search 100 bp 3'