Canonical Allele Identifier: CA2624726676
Gene: MGAT2 HGNC NCBI

Linked Data

gnomAD v4: 14-49621789-AGG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49621790_49621791del , CM000676.2:g.49621790_49621791del GRCh38
NC_000014.8:g.50088508_50088509del , CM000676.1:g.50088508_50088509del GRCh37
NC_000014.7:g.49158258_49158259del NCBI36
NG_008920.1:g.6020_6021del
NG_033054.1:g.3841_3842del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.522_523del MANE Select ENSP00000307423.2:p.Gln174HisfsTer12
ENST00000305386.3:c.522_523del ENSP00000307423.2:p.Gln174HisfsTer12
NM_002408.3:c.522_523del NP_002399.1:p.Gln174HisfsTer12
NM_002408.4:c.522_523del MANE Select NP_002399.1:p.Gln174HisfsTer12
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Search 100 bp 3'