Canonical Allele Identifier: CA7172530
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2971678
ClinVar RCV Id: RCV003832740
dbSNP Id: rs771450465
ExAC: 14:50088335 G / C
gnomAD v2: 14-50088335-G-C
gnomAD v3: 14-49621617-G-C
gnomAD v4: 14-49621617-G-C
MyVariant Identifiers: chr14:g.50088335G>C (hg19) chr14:g.49621617G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621617G>C , CM000676.2:g.49621617G>C GRCh38
NC_000014.8:g.50088335G>C , CM000676.1:g.50088335G>C GRCh37
NC_000014.7:g.49158085G>C NCBI36
NG_008920.1:g.5847G>C
NG_033054.1:g.4015C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.349G>C MANE Select ENSP00000307423.2:p.Glu117Gln
ENST00000305386.3:c.349G>C ENSP00000307423.2:p.Glu117Gln
NM_002408.3:c.349G>C NP_002399.1:p.Glu117Gln
NM_002408.4:c.349G>C MANE Select NP_002399.1:p.Glu117Gln
Search 100 bp 5'
Search 100 bp 3'