Canonical Allele Identifier: CA7172541
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3125902
ClinVar RCV Id: RCV004417222
dbSNP Id: rs1220494791
ExAC: 14:50088393 A / T
gnomAD v2: 14-50088393-A-T
gnomAD v3: 14-49621675-A-T
gnomAD v4: 14-49621675-A-T
MyVariant Identifiers: chr14:g.50088393A>T (hg19) chr14:g.50088393_50088418delinsTCTCACTTCGAAAAGCCCAGGGAATT (hg19) chr14:g.49621675A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621675A>T , CM000676.2:g.49621675A>T GRCh38
NC_000014.8:g.50088393A>T , CM000676.1:g.50088393A>T GRCh37
NC_000014.7:g.49158143A>T NCBI36
NG_008920.1:g.5905A>T
NG_033054.1:g.3957T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.407A>T MANE Select ENSP00000307423.2:p.Asp136Val
ENST00000305386.3:c.407A>T ENSP00000307423.2:p.Asp136Val
NM_002408.3:c.407A>T NP_002399.1:p.Asp136Val
NM_002408.4:c.407A>T MANE Select NP_002399.1:p.Asp136Val
Search 100 bp 5'
Search 100 bp 3'