Canonical Allele Identifier: CA389620290
Gene: MGAT2 HGNC NCBI

Linked Data

gnomAD v4: 14-49622020-A-C
MyVariant Identifiers: chr14:g.50088738A>C (hg19) chr14:g.49622020A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622020A>C , CM000676.2:g.49622020A>C GRCh38
NC_000014.8:g.50088738A>C , CM000676.1:g.50088738A>C GRCh37
NC_000014.7:g.49158488A>C NCBI36
NG_008920.1:g.6250A>C
NG_033054.1:g.3612T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.752A>C MANE Select ENSP00000307423.2:p.Tyr251Ser
ENST00000305386.3:c.752A>C ENSP00000307423.2:p.Tyr251Ser
NM_002408.3:c.752A>C NP_002399.1:p.Tyr251Ser
NM_002408.4:c.752A>C MANE Select NP_002399.1:p.Tyr251Ser
Search 100 bp 5'
Search 100 bp 3'