Canonical Allele Identifier: CA614273682
Gene: MGAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1469710453
gnomAD v2: 14-50088899-G-GAC
gnomAD v4: 14-49622181-G-GAC
MyVariant Identifiers: chr14:g.50088899_50088900insAC (hg19) chr14:g.49622181_49622182insAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622183_49622184dup , CM000676.2:g.49622183_49622184dup GRCh38
NC_000014.8:g.50088901_50088902dup , CM000676.1:g.50088901_50088902dup GRCh37
NC_000014.7:g.49158651_49158652dup NCBI36
NG_008920.1:g.6413_6414dup
NG_033054.1:g.3449_3450dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.915_916dup MANE Select ENSP00000307423.2:p.Lys306ThrfsTer3
ENST00000305386.3:c.915_916dup ENSP00000307423.2:p.Lys306ThrfsTer3
NM_002408.3:c.915_916dup NP_002399.1:p.Lys306ThrfsTer3
NM_002408.4:c.915_916dup MANE Select NP_002399.1:p.Lys306ThrfsTer3
Search 100 bp 5'
Search 100 bp 3'