Canonical Allele Identifier: CA389620264
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 489288
ClinVar RCV Id: RCV000579032
dbSNP Id: rs1555327099
MyVariant Identifiers: chr14:g.50088731C>T (hg19) chr14:g.49622013C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622013C>T , CM000676.2:g.49622013C>T GRCh38
NC_000014.8:g.50088731C>T , CM000676.1:g.50088731C>T GRCh37
NC_000014.7:g.49158481C>T NCBI36
NG_008920.1:g.6243C>T
NG_033054.1:g.3619G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.745C>T MANE Select ENSP00000307423.2:p.Arg249Ter
ENST00000305386.3:c.745C>T ENSP00000307423.2:p.Arg249Ter
NM_002408.3:c.745C>T NP_002399.1:p.Arg249Ter
NM_002408.4:c.745C>T MANE Select NP_002399.1:p.Arg249Ter
Search 100 bp 5'
Search 100 bp 3'