Canonical Allele Identifier: CA486350124
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1270484464
gnomAD v2: 14-50088502-T-A
gnomAD v4: 14-49621784-T-A
MyVariant Identifiers: chr14:g.50088502T>A (hg19) chr14:g.49621784T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621784T>A , CM000676.2:g.49621784T>A GRCh38
NC_000014.8:g.50088502T>A , CM000676.1:g.50088502T>A GRCh37
NC_000014.7:g.49158252T>A NCBI36
NG_008920.1:g.6014T>A
NG_033054.1:g.3848A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.516T>A MANE Select ENSP00000307423.2:p.Val172=
ENST00000305386.3:c.516T>A ENSP00000307423.2:p.Val172=
NM_002408.3:c.516T>A NP_002399.1:p.Val172=
NM_002408.4:c.516T>A MANE Select NP_002399.1:p.Val172=
Search 100 bp 5'
Search 100 bp 3'