Canonical Allele Identifier: CA7172580
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs759189395
ExAC: 14:50088588 C / T
gnomAD v2: 14-50088588-C-T
gnomAD v4: 14-49621870-C-T
MyVariant Identifiers: chr14:g.50088588C>T (hg19) chr14:g.49621870C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000305386.4:c.602C>T MANE Select ENSP00000307423.2:p.Pro201Leu
ENST00000305386.3:c.602C>T ENSP00000307423.2:p.Pro201Leu
NM_002408.3:c.602C>T NP_002399.1:p.Pro201Leu
NM_002408.4:c.602C>T MANE Select NP_002399.1:p.Pro201Leu
Search 100 bp 5'
Search 100 bp 3'