Canonical Allele Identifier: CA2042817506
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1876894147
gnomAD v3: 12-65965896-AT-A
gnomAD v4: 12-65965896-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65965901del , CM000674.2:g.65965901del GRCh38
NC_000012.11:g.66359681del , CM000674.1:g.66359681del GRCh37
NC_000012.10:g.64645948del NCBI36
NG_016296.1:g.146442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*2609del MANE Select ENSP00000384026.2:n.*2609del
ENST00000403681.6:c.*2609del ENSP00000384026.2:n.*2609del
NM_003483.4:c.*2609del NP_003474.1:n.*2609del
NM_003483.6:c.*2609del MANE Select NP_003474.1:n.*2609del
Search 100 bp 5'
Search 100 bp 3'