Canonical Allele Identifier: CA7172624
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs760966736
ExAC: 14:50088939 AT / A
gnomAD v2: 14-50088939-AT-A
gnomAD v4: 14-49622221-AT-A
MyVariant Identifiers: chr14:g.50088940del (hg19) chr14:g.49622222del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622222del , CM000676.2:g.49622222del GRCh38
NC_000014.8:g.50088940del , CM000676.1:g.50088940del GRCh37
NC_000014.7:g.49158690del NCBI36
NG_008920.1:g.6452del
NG_033054.1:g.3410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.954del MANE Select ENSP00000307423.2:p.Asn318LysfsTer4
ENST00000305386.3:c.954del ENSP00000307423.2:p.Asn318LysfsTer4
NM_002408.3:c.954del NP_002399.1:p.Asn318LysfsTer4
NM_002408.4:c.954del MANE Select NP_002399.1:p.Asn318LysfsTer4
Search 100 bp 5'
Search 100 bp 3'