Canonical Allele Identifier: CA2624726680
Gene: MGAT2 HGNC NCBI

Linked Data

gnomAD v4: 14-49622032-TACTTTTCCTAG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622034_49622044del , CM000676.2:g.49622034_49622044del GRCh38
NC_000014.8:g.50088752_50088762del , CM000676.1:g.50088752_50088762del GRCh37
NC_000014.7:g.49158502_49158512del NCBI36
NG_008920.1:g.6264_6274del
NG_033054.1:g.3589_3599del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.766_776del MANE Select ENSP00000307423.2:p.Leu256ArgfsTer26
ENST00000305386.3:c.766_776del ENSP00000307423.2:p.Leu256ArgfsTer26
NM_002408.3:c.766_776del NP_002399.1:p.Leu256ArgfsTer26
NM_002408.4:c.766_776del MANE Select NP_002399.1:p.Leu256ArgfsTer26
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