Canonical Allele Identifier: CA7172531
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 313256
ClinVar RCV Id: RCV000427887 RCV000871760
dbSNP Id: rs148802016
ExAC: 14:50088346 G / A
gnomAD v2: 14-50088346-G-A
gnomAD v3: 14-49621628-G-A
gnomAD v4: 14-49621628-G-A
MyVariant Identifiers: chr14:g.50088346G>A (hg19) chr14:g.49621628G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621628G>A , CM000676.2:g.49621628G>A GRCh38
NC_000014.8:g.50088346G>A , CM000676.1:g.50088346G>A GRCh37
NC_000014.7:g.49158096G>A NCBI36
NG_008920.1:g.5858G>A
NG_033054.1:g.4004C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.360G>A MANE Select ENSP00000307423.2:p.Leu120=
ENST00000305386.3:c.360G>A ENSP00000307423.2:p.Leu120=
NM_002408.3:c.360G>A NP_002399.1:p.Leu120=
NM_002408.4:c.360G>A MANE Select NP_002399.1:p.Leu120=
Search 100 bp 5'
Search 100 bp 3'