Canonical Allele Identifier: CA2624726678
Gene: MGAT2 HGNC NCBI

Linked Data

gnomAD v4: 14-49622003-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622007dup , CM000676.2:g.49622007dup GRCh38
NC_000014.8:g.50088725dup , CM000676.1:g.50088725dup GRCh37
NC_000014.7:g.49158475dup NCBI36
NG_008920.1:g.6237dup
NG_033054.1:g.3628dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.739dup MANE Select ENSP00000307423.2:p.Ile247AsnfsTer?
ENST00000305386.3:c.739dup ENSP00000307423.2:p.Ile247AsnfsTer?
NM_002408.3:c.739dup NP_002399.1:p.Ile247AsnfsTer?
NM_002408.4:c.739dup MANE Select NP_002399.1:p.Ile247AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'