Canonical Allele Identifier: CA7172597
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 880802
ClinVar RCV Id: RCV001109335
dbSNP Id: rs147353945
ExAC: 14:50088750 T / C
gnomAD v2: 14-50088750-T-C
gnomAD v3: 14-49622032-T-C
gnomAD v4: 14-49622032-T-C
MyVariant Identifiers: chr14:g.50088750T>C (hg19) chr14:g.49622032T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622032T>C , CM000676.2:g.49622032T>C GRCh38
NC_000014.8:g.50088750T>C , CM000676.1:g.50088750T>C GRCh37
NC_000014.7:g.49158500T>C NCBI36
NG_008920.1:g.6262T>C
NG_033054.1:g.3600A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.764T>C MANE Select ENSP00000307423.2:p.Ile255Thr
ENST00000305386.3:c.764T>C ENSP00000307423.2:p.Ile255Thr
NM_002408.3:c.764T>C NP_002399.1:p.Ile255Thr
NM_002408.4:c.764T>C MANE Select NP_002399.1:p.Ile255Thr
Search 100 bp 5'
Search 100 bp 3'