Canonical Allele Identifier: CA486350291
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 711584
ClinVar RCV Id: RCV000883371
dbSNP Id: rs1594599521
gnomAD v4: 14-49621859-C-T
MyVariant Identifiers: chr14:g.50088577C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621859C>T , CM000676.2:g.49621859C>T GRCh38
NC_000014.8:g.50088577C>T , CM000676.1:g.50088577C>T GRCh37
NC_000014.7:g.49158327C>T NCBI36
NG_008920.1:g.6089C>T
NG_033054.1:g.3773G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.591C>T MANE Select ENSP00000307423.2:p.Pro197=
ENST00000305386.3:c.591C>T ENSP00000307423.2:p.Pro197=
NM_002408.3:c.591C>T NP_002399.1:p.Pro197=
NM_002408.4:c.591C>T MANE Select NP_002399.1:p.Pro197=
Search 100 bp 5'
Search 100 bp 3'