Canonical Allele Identifier: CA7172534
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs563720279
ExAC: 14:50088379 C / G
gnomAD v2: 14-50088379-C-G
gnomAD v3: 14-49621661-C-G
gnomAD v4: 14-49621661-C-G
MyVariant Identifiers: chr14:g.50088379C>G (hg19) chr14:g.49621661C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.393C>G MANE Select ENSP00000307423.2:p.Leu131=
ENST00000305386.3:c.393C>G ENSP00000307423.2:p.Leu131=
NM_002408.3:c.393C>G NP_002399.1:p.Leu131=
NM_002408.4:c.393C>G MANE Select NP_002399.1:p.Leu131=
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