Canonical Allele Identifier: CA389620830
Gene: MGAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.50088857C>G (hg19) chr14:g.49622139C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622139C>G , CM000676.2:g.49622139C>G GRCh38
NC_000014.8:g.50088857C>G , CM000676.1:g.50088857C>G GRCh37
NC_000014.7:g.49158607C>G NCBI36
NG_008920.1:g.6369C>G
NG_033054.1:g.3493G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.871C>G MANE Select ENSP00000307423.2:p.Leu291Val
ENST00000305386.3:c.871C>G ENSP00000307423.2:p.Leu291Val
NM_002408.3:c.871C>G NP_002399.1:p.Leu291Val
NM_002408.4:c.871C>G MANE Select NP_002399.1:p.Leu291Val
Search 100 bp 5'
Search 100 bp 3'