Canonical Allele Identifier: CA260660821
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs867161171
gnomAD v4: 14-49622179-C-CT
MyVariant Identifiers: chr14:g.50088897_50088898insT (hg19) chr14:g.49622179_49622180insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622180dup , CM000676.2:g.49622180dup GRCh38
NC_000014.8:g.50088898dup , CM000676.1:g.50088898dup GRCh37
NC_000014.7:g.49158648dup NCBI36
NG_008920.1:g.6410dup
NG_033054.1:g.3452dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.912dup MANE Select ENSP00000307423.2:p.Asp305Ter
ENST00000305386.3:c.912dup ENSP00000307423.2:p.Asp305Ter
NM_002408.3:c.912dup NP_002399.1:p.Asp305Ter
NM_002408.4:c.912dup MANE Select NP_002399.1:p.Asp305Ter
Search 100 bp 5'
Search 100 bp 3'