Canonical Allele Identifier: CA7172526
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 817419
ClinVar RCV Id: RCV001008547
dbSNP Id: rs748791502
ExAC: 14:50088326 G / GC
gnomAD v4: 14-49621608-G-GC
MyVariant Identifiers: chr14:g.50088326_50088327insC (hg19) chr14:g.49621608_49621609insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621614dup , CM000676.2:g.49621614dup GRCh38
NC_000014.8:g.50088332dup , CM000676.1:g.50088332dup GRCh37
NC_000014.7:g.49158082dup NCBI36
NG_008920.1:g.5844dup
NG_033054.1:g.4023dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.346dup MANE Select ENSP00000307423.2:p.Arg116ProfsTer11
ENST00000305386.3:c.346dup ENSP00000307423.2:p.Arg116ProfsTer11
NM_002408.3:c.346dup NP_002399.1:p.Arg116ProfsTer11
NM_002408.4:c.346dup MANE Select NP_002399.1:p.Arg116ProfsTer11
Search 100 bp 5'
Search 100 bp 3'