Canonical Allele Identifier: CA389619520
Gene: MGAT2 HGNC NCBI

Linked Data

gnomAD v4: 14-49621870-C-G
MyVariant Identifiers: chr14:g.50088588C>G (hg19) chr14:g.49621870C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621870C>G , CM000676.2:g.49621870C>G GRCh38
NC_000014.8:g.50088588C>G , CM000676.1:g.50088588C>G GRCh37
NC_000014.7:g.49158338C>G NCBI36
NG_008920.1:g.6100C>G
NG_033054.1:g.3762G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.602C>G MANE Select ENSP00000307423.2:p.Pro201Arg
ENST00000305386.3:c.602C>G ENSP00000307423.2:p.Pro201Arg
NM_002408.3:c.602C>G NP_002399.1:p.Pro201Arg
NM_002408.4:c.602C>G MANE Select NP_002399.1:p.Pro201Arg
Search 100 bp 5'
Search 100 bp 3'