Canonical Allele Identifier: CA614273681
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs748791502
gnomAD v2: 14-50088326-GC-G
COSMIC: COSM4702002
MyVariant Identifiers: chr14:g.50088327del (hg19) chr14:g.49621609del (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.346del MANE Select ENSP00000307423.2:p.Arg116GlyfsTer?
ENST00000305386.3:c.346del ENSP00000307423.2:p.Arg116GlyfsTer?
NM_002408.3:c.346del NP_002399.1:p.Arg116GlyfsTer?
NM_002408.4:c.346del MANE Select NP_002399.1:p.Arg116GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'