Canonical Allele Identifier: CA389617985
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1376904088
gnomAD v2: 14-50088330-C-G
gnomAD v4: 14-49621612-C-G
MyVariant Identifiers: chr14:g.50088330C>G (hg19) chr14:g.49621612C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621612C>G , CM000676.2:g.49621612C>G GRCh38
NC_000014.8:g.50088330C>G , CM000676.1:g.50088330C>G GRCh37
NC_000014.7:g.49158080C>G NCBI36
NG_008920.1:g.5842C>G
NG_033054.1:g.4020G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.344C>G MANE Select ENSP00000307423.2:p.Pro115Arg
ENST00000305386.3:c.344C>G ENSP00000307423.2:p.Pro115Arg
NM_002408.3:c.344C>G NP_002399.1:p.Pro115Arg
NM_002408.4:c.344C>G MANE Select NP_002399.1:p.Pro115Arg
Search 100 bp 5'
Search 100 bp 3'