Canonical Allele Identifier: CA605680924
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs909910206
gnomAD v2: 12-66359631-GA-G
gnomAD v3: 12-65965851-GA-G
gnomAD v4: 12-65965851-GA-G
MyVariant Identifiers: chr12:g.66359632del (hg19) chr12:g.65965852del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65965860del , CM000674.2:g.65965860del GRCh38
NC_000012.11:g.66359640del , CM000674.1:g.66359640del GRCh37
NC_000012.10:g.64645907del NCBI36
NG_016296.1:g.146401del

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*2568del MANE Select ENSP00000384026.2:n.*2568del
ENST00000403681.6:c.*2568del ENSP00000384026.2:n.*2568del
NM_003483.4:c.*2568del NP_003474.1:n.*2568del
NM_003483.6:c.*2568del MANE Select NP_003474.1:n.*2568del
Search 100 bp 5'
Search 100 bp 3'