Canonical Allele Identifier: CA7172539
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs770569853
ExAC: 14:50088390 TGG / T
gnomAD v2: 14-50088390-TGG-T
gnomAD v4: 14-49621672-TGG-T
MyVariant Identifiers: chr14:g.50088391_50088392del (hg19) chr14:g.49621673_49621674del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621673_49621674del , CM000676.2:g.49621673_49621674del GRCh38
NC_000014.8:g.50088391_50088392del , CM000676.1:g.50088391_50088392del GRCh37
NC_000014.7:g.49158141_49158142del NCBI36
NG_008920.1:g.5903_5904del
NG_033054.1:g.3958_3959del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.405_406del MANE Select ENSP00000307423.2:p.Asp136LeufsTer9
ENST00000305386.3:c.405_406del ENSP00000307423.2:p.Asp136LeufsTer9
NM_002408.3:c.405_406del NP_002399.1:p.Asp136LeufsTer9
NM_002408.4:c.405_406del MANE Select NP_002399.1:p.Asp136LeufsTer9
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