Canonical Allele Identifier: CA389619394
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs780633686
gnomAD v3: 14-49621814-G-C
gnomAD v4: 14-49621814-G-C
MyVariant Identifiers: chr14:g.50088532G>C (hg19) chr14:g.49621814G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621814G>C , CM000676.2:g.49621814G>C GRCh38
NC_000014.8:g.50088532G>C , CM000676.1:g.50088532G>C GRCh37
NC_000014.7:g.49158282G>C NCBI36
NG_008920.1:g.6044G>C
NG_033054.1:g.3818C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.546G>C MANE Select ENSP00000307423.2:p.Gln182His
ENST00000305386.3:c.546G>C ENSP00000307423.2:p.Gln182His
NM_002408.3:c.546G>C NP_002399.1:p.Gln182His
NM_002408.4:c.546G>C MANE Select NP_002399.1:p.Gln182His
Search 100 bp 5'
Search 100 bp 3'