Canonical Allele Identifier: CA389619314
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 635035
ClinVar RCV Id: RCV000785908
dbSNP Id: rs1327830771
gnomAD v2: 14-50088497-C-A
gnomAD v4: 14-49621779-C-A
MyVariant Identifiers: chr14:g.50088497C>A (hg19) chr14:g.49621779C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621779C>A , CM000676.2:g.49621779C>A GRCh38
NC_000014.8:g.50088497C>A , CM000676.1:g.50088497C>A GRCh37
NC_000014.7:g.49158247C>A NCBI36
NG_008920.1:g.6009C>A
NG_033054.1:g.3853G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.511C>A MANE Select ENSP00000307423.2:p.Pro171Thr
ENST00000305386.3:c.511C>A ENSP00000307423.2:p.Pro171Thr
NM_002408.3:c.511C>A NP_002399.1:p.Pro171Thr
NM_002408.4:c.511C>A MANE Select NP_002399.1:p.Pro171Thr
Search 100 bp 5'
Search 100 bp 3'