Canonical Allele Identifier: CA389619361
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs757312452
gnomAD v2: 14-50088517-T-G
gnomAD v4: 14-49621799-T-G
MyVariant Identifiers: chr14:g.50088517T>G (hg19) chr14:g.49621799T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621799T>G , CM000676.2:g.49621799T>G GRCh38
NC_000014.8:g.50088517T>G , CM000676.1:g.50088517T>G GRCh37
NC_000014.7:g.49158267T>G NCBI36
NG_008920.1:g.6029T>G
NG_033054.1:g.3833A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.531T>G MANE Select ENSP00000307423.2:p.Phe177Leu
ENST00000305386.3:c.531T>G ENSP00000307423.2:p.Phe177Leu
NM_002408.3:c.531T>G NP_002399.1:p.Phe177Leu
NM_002408.4:c.531T>G MANE Select NP_002399.1:p.Phe177Leu
Search 100 bp 5'
Search 100 bp 3'