Canonical Allele Identifier: CA7172547
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2410855
ClinVar RCV Id: RCV002774502
dbSNP Id: rs778091454
ExAC: 14:50088423 A / G
gnomAD v2: 14-50088423-A-G
gnomAD v3: 14-49621705-A-G
gnomAD v4: 14-49621705-A-G
MyVariant Identifiers: chr14:g.50088423A>G (hg19) chr14:g.49621705A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621705A>G , CM000676.2:g.49621705A>G GRCh38
NC_000014.8:g.50088423A>G , CM000676.1:g.50088423A>G GRCh37
NC_000014.7:g.49158173A>G NCBI36
NG_008920.1:g.5935A>G
NG_033054.1:g.3927T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.437A>G MANE Select ENSP00000307423.2:p.Asn146Ser
ENST00000305386.3:c.437A>G ENSP00000307423.2:p.Asn146Ser
NM_002408.3:c.437A>G NP_002399.1:p.Asn146Ser
NM_002408.4:c.437A>G MANE Select NP_002399.1:p.Asn146Ser
Search 100 bp 5'
Search 100 bp 3'