Canonical Allele Identifier: CA238996325
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs201441270
gnomAD v2: 12-66358107-TTC-T
gnomAD v3: 12-65964327-TTC-T
gnomAD v4: 12-65964327-TTC-T
MyVariant Identifiers: chr12:g.66358108_66358109del (hg19) chr12:g.65964328_65964329del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964339_65964340del , CM000674.2:g.65964339_65964340del GRCh38
NC_000012.11:g.66358119_66358120del , CM000674.1:g.66358119_66358120del GRCh37
NC_000012.10:g.64644386_64644387del NCBI36
NG_016296.1:g.144880_144881del

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*1047_*1048del MANE Select ENSP00000384026.2:n.*1047_*1048del
ENST00000403681.6:c.*1047_*1048del ENSP00000384026.2:n.*1047_*1048del
NM_003483.4:c.*1047_*1048del NP_003474.1:n.*1047_*1048del
NM_003483.6:c.*1047_*1048del MANE Select NP_003474.1:n.*1047_*1048del
Search 100 bp 5'
Search 100 bp 3'