Canonical Allele Identifier: CA389619494
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 880801
ClinVar RCV Id: RCV001109334
dbSNP Id: rs1318755521
gnomAD v2: 14-50088576-C-A
gnomAD v4: 14-49621858-C-A
MyVariant Identifiers: chr14:g.50088576C>A (hg19) chr14:g.49621858C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621858C>A , CM000676.2:g.49621858C>A GRCh38
NC_000014.8:g.50088576C>A , CM000676.1:g.50088576C>A GRCh37
NC_000014.7:g.49158326C>A NCBI36
NG_008920.1:g.6088C>A
NG_033054.1:g.3774G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.590C>A MANE Select ENSP00000307423.2:p.Pro197His
ENST00000305386.3:c.590C>A ENSP00000307423.2:p.Pro197His
NM_002408.3:c.590C>A NP_002399.1:p.Pro197His
NM_002408.4:c.590C>A MANE Select NP_002399.1:p.Pro197His
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