Canonical Allele Identifier: CA7172619
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1155354
ClinVar RCV Id: RCV001497666
dbSNP Id: rs763942335
ExAC: 14:50088907 A / G
gnomAD v2: 14-50088907-A-G
gnomAD v3: 14-49622189-A-G
gnomAD v4: 14-49622189-A-G
MyVariant Identifiers: chr14:g.50088907A>G (hg19) chr14:g.49622189A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622189A>G , CM000676.2:g.49622189A>G GRCh38
NC_000014.8:g.50088907A>G , CM000676.1:g.50088907A>G GRCh37
NC_000014.7:g.49158657A>G NCBI36
NG_008920.1:g.6419A>G
NG_033054.1:g.3443T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.921A>G MANE Select ENSP00000307423.2:p.Val307=
ENST00000305386.3:c.921A>G ENSP00000307423.2:p.Val307=
NM_002408.3:c.921A>G NP_002399.1:p.Val307=
NM_002408.4:c.921A>G MANE Select NP_002399.1:p.Val307=
Search 100 bp 5'
Search 100 bp 3'