Canonical Allele Identifier: CA389618891
Gene: MGAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.50088398C>A (hg19) chr14:g.49621680C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621680C>A , CM000676.2:g.49621680C>A GRCh38
NC_000014.8:g.50088398C>A , CM000676.1:g.50088398C>A GRCh37
NC_000014.7:g.49158148C>A NCBI36
NG_008920.1:g.5910C>A
NG_033054.1:g.3952G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.412C>A MANE Select ENSP00000307423.2:p.Leu138Ile
ENST00000305386.3:c.412C>A ENSP00000307423.2:p.Leu138Ile
NM_002408.3:c.412C>A NP_002399.1:p.Leu138Ile
NM_002408.4:c.412C>A MANE Select NP_002399.1:p.Leu138Ile
Search 100 bp 5'
Search 100 bp 3'