Canonical Allele Identifier: CA389620277
Gene: MGAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622017A>C , CM000676.2:g.49622017A>C GRCh38
NC_000014.8:g.50088735A>C , CM000676.1:g.50088735A>C GRCh37
NC_000014.7:g.49158485A>C NCBI36
NG_008920.1:g.6247A>C
NG_033054.1:g.3615T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.749A>C MANE Select ENSP00000307423.2:p.Asp250Ala
ENST00000305386.3:c.749A>C ENSP00000307423.2:p.Asp250Ala
NM_002408.3:c.749A>C NP_002399.1:p.Asp250Ala
NM_002408.4:c.749A>C MANE Select NP_002399.1:p.Asp250Ala