Canonical Allele Identifier: CA389619496
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1318755521
gnomAD v2: 14-50088576-C-T
gnomAD v4: 14-49621858-C-T
MyVariant Identifiers: chr14:g.50088576C>T (hg19) chr14:g.49621858C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621858C>T , CM000676.2:g.49621858C>T GRCh38
NC_000014.8:g.50088576C>T , CM000676.1:g.50088576C>T GRCh37
NC_000014.7:g.49158326C>T NCBI36
NG_008920.1:g.6088C>T
NG_033054.1:g.3774G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.590C>T MANE Select ENSP00000307423.2:p.Pro197Leu
ENST00000305386.3:c.590C>T ENSP00000307423.2:p.Pro197Leu
NM_002408.3:c.590C>T NP_002399.1:p.Pro197Leu
NM_002408.4:c.590C>T MANE Select NP_002399.1:p.Pro197Leu
Search 100 bp 5'
Search 100 bp 3'