Canonical Allele Identifier: CA7172582
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 385677
ClinVar RCV Id: RCV000423478 RCV000872865
dbSNP Id: rs147375948
ExAC: 14:50088595 T / C
gnomAD v2: 14-50088595-T-C
gnomAD v3: 14-49621877-T-C
gnomAD v4: 14-49621877-T-C
MyVariant Identifiers: chr14:g.50088595T>C (hg19) chr14:g.49621877T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621877T>C , CM000676.2:g.49621877T>C GRCh38
NC_000014.8:g.50088595T>C , CM000676.1:g.50088595T>C GRCh37
NC_000014.7:g.49158345T>C NCBI36
NG_008920.1:g.6107T>C
NG_033054.1:g.3755A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305386.4:c.609T>C MANE Select ENSP00000307423.2:p.Asn203=
ENST00000305386.3:c.609T>C ENSP00000307423.2:p.Asn203=
NM_002408.3:c.609T>C NP_002399.1:p.Asn203=
NM_002408.4:c.609T>C MANE Select NP_002399.1:p.Asn203=
Search 100 bp 5'
Search 100 bp 3'