Canonical Allele Identifier: CA614273686
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1566504578
gnomAD v2: 14-50088410-CA-C
gnomAD v4: 14-49621692-CA-C
MyVariant Identifiers: chr14:g.50088411del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621693del , CM000676.2:g.49621693del GRCh38
NC_000014.8:g.50088411del , CM000676.1:g.50088411del GRCh37
NC_000014.7:g.49158161del NCBI36
NG_008920.1:g.5923del
NG_033054.1:g.3939del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.425del MANE Select ENSP00000307423.2:p.Gln142ArgfsTer22
ENST00000305386.3:c.425del ENSP00000307423.2:p.Gln142ArgfsTer22
NM_002408.3:c.425del NP_002399.1:p.Gln142ArgfsTer22
NM_002408.4:c.425del MANE Select NP_002399.1:p.Gln142ArgfsTer22
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Search 100 bp 3'