Canonical Allele Identifier: CA389619489
Gene: MGAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.50088573G>T (hg19) chr14:g.49621855G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621855G>T , CM000676.2:g.49621855G>T GRCh38
NC_000014.8:g.50088573G>T , CM000676.1:g.50088573G>T GRCh37
NC_000014.7:g.49158323G>T NCBI36
NG_008920.1:g.6085G>T
NG_033054.1:g.3777C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.587G>T MANE Select ENSP00000307423.2:p.Cys196Phe
ENST00000305386.3:c.587G>T ENSP00000307423.2:p.Cys196Phe
NM_002408.3:c.587G>T NP_002399.1:p.Cys196Phe
NM_002408.4:c.587G>T MANE Select NP_002399.1:p.Cys196Phe
Search 100 bp 5'
Search 100 bp 3'