Canonical Allele Identifier: CA486349860
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 749956
ClinVar RCV Id: RCV000926885
dbSNP Id: rs765206641
gnomAD v4: 14-49621670-G-A
MyVariant Identifiers: chr14:g.50088388G>A (hg19) chr14:g.49621670G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621670G>A , CM000676.2:g.49621670G>A GRCh38
NC_000014.8:g.50088388G>A , CM000676.1:g.50088388G>A GRCh37
NC_000014.7:g.49158138G>A NCBI36
NG_008920.1:g.5900G>A
NG_033054.1:g.3962C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.402G>A MANE Select ENSP00000307423.2:p.Leu134=
ENST00000305386.3:c.402G>A ENSP00000307423.2:p.Leu134=
NM_002408.3:c.402G>A NP_002399.1:p.Leu134=
NM_002408.4:c.402G>A MANE Select NP_002399.1:p.Leu134=
Search 100 bp 5'
Search 100 bp 3'