Canonical Allele Identifier: CA7172606
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 648000
ClinVar RCV Id: RCV000802628
dbSNP Id: rs201673817
ExAC: 14:50088836 C / T
gnomAD v2: 14-50088836-C-T
gnomAD v3: 14-49622118-C-T
gnomAD v4: 14-49622118-C-T
MyVariant Identifiers: chr14:g.50088836C>T (hg19) chr14:g.49622118C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622118C>T , CM000676.2:g.49622118C>T GRCh38
NC_000014.8:g.50088836C>T , CM000676.1:g.50088836C>T GRCh37
NC_000014.7:g.49158586C>T NCBI36
NG_008920.1:g.6348C>T
NG_033054.1:g.3514G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.850C>T MANE Select ENSP00000307423.2:p.Pro284Ser
ENST00000305386.3:c.850C>T ENSP00000307423.2:p.Pro284Ser
NM_002408.3:c.850C>T NP_002399.1:p.Pro284Ser
NM_002408.4:c.850C>T MANE Select NP_002399.1:p.Pro284Ser
Search 100 bp 5'
Search 100 bp 3'