Canonical Allele Identifier: CA486350304
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs766182287
MyVariant Identifiers: chr14:g.50088583C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621865C>T , CM000676.2:g.49621865C>T GRCh38
NC_000014.8:g.50088583C>T , CM000676.1:g.50088583C>T GRCh37
NC_000014.7:g.49158333C>T NCBI36
NG_008920.1:g.6095C>T
NG_033054.1:g.3767G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.597C>T MANE Select ENSP00000307423.2:p.Asp199=
ENST00000305386.3:c.597C>T ENSP00000307423.2:p.Asp199=
NM_002408.3:c.597C>T NP_002399.1:p.Asp199=
NM_002408.4:c.597C>T MANE Select NP_002399.1:p.Asp199=