Canonical Allele Identifier: CA7172565
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3125903
ClinVar RCV Id: RCV004417223
dbSNP Id: rs142040736
ExAC: 14:50088503 C / A
gnomAD v2: 14-50088503-C-A
gnomAD v3: 14-49621785-C-A
gnomAD v4: 14-49621785-C-A
MyVariant Identifiers: chr14:g.50088503C>A (hg19) chr14:g.49621785C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621785C>A , CM000676.2:g.49621785C>A GRCh38
NC_000014.8:g.50088503C>A , CM000676.1:g.50088503C>A GRCh37
NC_000014.7:g.49158253C>A NCBI36
NG_008920.1:g.6015C>A
NG_033054.1:g.3847G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.517C>A MANE Select ENSP00000307423.2:p.Leu173Met
ENST00000305386.3:c.517C>A ENSP00000307423.2:p.Leu173Met
NM_002408.3:c.517C>A NP_002399.1:p.Leu173Met
NM_002408.4:c.517C>A MANE Select NP_002399.1:p.Leu173Met
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