Canonical Allele Identifier: CA7172542
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs778623381
ExAC: 14:50088393 ACTCACTTCGAAAAGCCCAGGGAATT / A
gnomAD v2: 14-50088393-ACTCACTTCGAAAAGCCCAGGGAATT-A
gnomAD v4: 14-49621675-ACTCACTTCGAAAAGCCCAGGGAATT-A
MyVariant Identifiers: chr14:g.50088394_50088418del (hg19) chr14:g.49621676_49621700del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621676_49621700del , CM000676.2:g.49621676_49621700del GRCh38
NC_000014.8:g.50088394_50088418del , CM000676.1:g.50088394_50088418del GRCh37
NC_000014.7:g.49158144_49158168del NCBI36
NG_008920.1:g.5906_5930del
NG_033054.1:g.3932_3956del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.408_432del MANE Select ENSP00000307423.2:p.Asp136GlufsTer20
ENST00000305386.3:c.408_432del ENSP00000307423.2:p.Asp136GlufsTer20
NM_002408.3:c.408_432del NP_002399.1:p.Asp136GlufsTer20
NM_002408.4:c.408_432del MANE Select NP_002399.1:p.Asp136GlufsTer20
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