Canonical Allele Identifier: CA7172562
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1029594
ClinVar RCV Id: RCV001330924
dbSNP Id: rs751276217
ExAC: 14:50088495 G / A
gnomAD v2: 14-50088495-G-A
gnomAD v3: 14-49621777-G-A
gnomAD v4: 14-49621777-G-A
MyVariant Identifiers: chr14:g.50088495G>A (hg19) chr14:g.49621777G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621777G>A , CM000676.2:g.49621777G>A GRCh38
NC_000014.8:g.50088495G>A , CM000676.1:g.50088495G>A GRCh37
NC_000014.7:g.49158245G>A NCBI36
NG_008920.1:g.6007G>A
NG_033054.1:g.3855C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.509G>A MANE Select ENSP00000307423.2:p.Cys170Tyr
ENST00000305386.3:c.509G>A ENSP00000307423.2:p.Cys170Tyr
NM_002408.3:c.509G>A NP_002399.1:p.Cys170Tyr
NM_002408.4:c.509G>A MANE Select NP_002399.1:p.Cys170Tyr
Search 100 bp 5'
Search 100 bp 3'