Canonical Allele Identifier: CA7172616
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs771993659
ExAC: 14:50088888 A / G
gnomAD v2: 14-50088888-A-G
gnomAD v3: 14-49622170-A-G
gnomAD v4: 14-49622170-A-G
MyVariant Identifiers: chr14:g.50088888A>G (hg19) chr14:g.49622170A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622170A>G , CM000676.2:g.49622170A>G GRCh38
NC_000014.8:g.50088888A>G , CM000676.1:g.50088888A>G GRCh37
NC_000014.7:g.49158638A>G NCBI36
NG_008920.1:g.6400A>G
NG_033054.1:g.3462T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.902A>G MANE Select ENSP00000307423.2:p.Tyr301Cys
ENST00000305386.3:c.902A>G ENSP00000307423.2:p.Tyr301Cys
NM_002408.3:c.902A>G NP_002399.1:p.Tyr301Cys
NM_002408.4:c.902A>G MANE Select NP_002399.1:p.Tyr301Cys
Search 100 bp 5'
Search 100 bp 3'