Canonical Allele Identifier: CA389619514
Gene: MGAT2 HGNC NCBI

Linked Data

gnomAD v4: 14-49621867-T-C
MyVariant Identifiers: chr14:g.50088585T>C (hg19) chr14:g.49621867T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621867T>C , CM000676.2:g.49621867T>C GRCh38
NC_000014.8:g.50088585T>C , CM000676.1:g.50088585T>C GRCh37
NC_000014.7:g.49158335T>C NCBI36
NG_008920.1:g.6097T>C
NG_033054.1:g.3765A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.599T>C MANE Select ENSP00000307423.2:p.Leu200Pro
ENST00000305386.3:c.599T>C ENSP00000307423.2:p.Leu200Pro
NM_002408.3:c.599T>C NP_002399.1:p.Leu200Pro
NM_002408.4:c.599T>C MANE Select NP_002399.1:p.Leu200Pro
Search 100 bp 5'
Search 100 bp 3'