Canonical Allele Identifier: CA486350311
Gene: MGAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.50088586G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621868G>C , CM000676.2:g.49621868G>C GRCh38
NC_000014.8:g.50088586G>C , CM000676.1:g.50088586G>C GRCh37
NC_000014.7:g.49158336G>C NCBI36
NG_008920.1:g.6098G>C
NG_033054.1:g.3764C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305386.4:c.600G>C MANE Select ENSP00000307423.2:p.Leu200=
ENST00000305386.3:c.600G>C ENSP00000307423.2:p.Leu200=
NM_002408.3:c.600G>C NP_002399.1:p.Leu200=
NM_002408.4:c.600G>C MANE Select NP_002399.1:p.Leu200=