Canonical Allele Identifier: CA254038
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 6991
ClinVar RCV Id: RCV000007407
dbSNP Id: rs104894448

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622220A>G , CM000676.2:g.49622220A>G GRCh38
NC_000014.8:g.50088938A>G , CM000676.1:g.50088938A>G GRCh37
NC_000014.7:g.49158688A>G NCBI36
NG_008920.1:g.6450A>G
NG_033054.1:g.3412T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.952A>G MANE Select ENSP00000307423.2:p.Asn318Asp
ENST00000305386.3:c.952A>G ENSP00000307423.2:p.Asn318Asp
NM_002408.3:c.952A>G NP_002399.1:p.Asn318Asp
NM_002408.4:c.952A>G MANE Select NP_002399.1:p.Asn318Asp