Canonical Allele Identifier: CA7172535
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs563720279
ExAC: 14:50088379 C / T
gnomAD v2: 14-50088379-C-T
gnomAD v4: 14-49621661-C-T
MyVariant Identifiers: chr14:g.50088379C>T (hg19) chr14:g.49621661C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621661C>T , CM000676.2:g.49621661C>T GRCh38
NC_000014.8:g.50088379C>T , CM000676.1:g.50088379C>T GRCh37
NC_000014.7:g.49158129C>T NCBI36
NG_008920.1:g.5891C>T
NG_033054.1:g.3971G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.393C>T MANE Select ENSP00000307423.2:p.Leu131=
ENST00000305386.3:c.393C>T ENSP00000307423.2:p.Leu131=
NM_002408.3:c.393C>T NP_002399.1:p.Leu131=
NM_002408.4:c.393C>T MANE Select NP_002399.1:p.Leu131=
Search 100 bp 5'
Search 100 bp 3'