Canonical Allele Identifier: CA260660616
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs771450465
gnomAD v4: 14-49621617-G-A
MyVariant Identifiers: chr14:g.50088335G>A (hg19) chr14:g.49621617G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621617G>A , CM000676.2:g.49621617G>A GRCh38
NC_000014.8:g.50088335G>A , CM000676.1:g.50088335G>A GRCh37
NC_000014.7:g.49158085G>A NCBI36
NG_008920.1:g.5847G>A
NG_033054.1:g.4015C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.349G>A MANE Select ENSP00000307423.2:p.Glu117Lys
ENST00000305386.3:c.349G>A ENSP00000307423.2:p.Glu117Lys
NM_002408.3:c.349G>A NP_002399.1:p.Glu117Lys
NM_002408.4:c.349G>A MANE Select NP_002399.1:p.Glu117Lys
Search 100 bp 5'
Search 100 bp 3'