Canonical Allele Identifier: CA486350145
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1936298
ClinVar RCV Id: RCV002657982
dbSNP Id: rs1216501852
gnomAD v2: 14-50088511-G-A
gnomAD v4: 14-49621793-G-A
MyVariant Identifiers: chr14:g.50088511G>A (hg19) chr14:g.49621793G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621793G>A , CM000676.2:g.49621793G>A GRCh38
NC_000014.8:g.50088511G>A , CM000676.1:g.50088511G>A GRCh37
NC_000014.7:g.49158261G>A NCBI36
NG_008920.1:g.6023G>A
NG_033054.1:g.3839C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.525G>A MANE Select ENSP00000307423.2:p.Val175=
ENST00000305386.3:c.525G>A ENSP00000307423.2:p.Val175=
NM_002408.3:c.525G>A NP_002399.1:p.Val175=
NM_002408.4:c.525G>A MANE Select NP_002399.1:p.Val175=
Search 100 bp 5'
Search 100 bp 3'