Canonical Allele Identifier: CA389620796
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 568996
ClinVar RCV Id: RCV000689519
dbSNP Id: rs1455410429
gnomAD v2: 14-50088848-G-A
gnomAD v3: 14-49622130-G-A
gnomAD v4: 14-49622130-G-A
MyVariant Identifiers: chr14:g.50088848G>A (hg19) chr14:g.49622130G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622130G>A , CM000676.2:g.49622130G>A GRCh38
NC_000014.8:g.50088848G>A , CM000676.1:g.50088848G>A GRCh37
NC_000014.7:g.49158598G>A NCBI36
NG_008920.1:g.6360G>A
NG_033054.1:g.3502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.862G>A MANE Select ENSP00000307423.2:p.Val288Ile
ENST00000305386.3:c.862G>A ENSP00000307423.2:p.Val288Ile
NM_002408.3:c.862G>A NP_002399.1:p.Val288Ile
NM_002408.4:c.862G>A MANE Select NP_002399.1:p.Val288Ile
Search 100 bp 5'
Search 100 bp 3'