Canonical Allele Identifier: CA605680890
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1198503538
gnomAD v2: 12-66358114-TCTCTCTTC-T
gnomAD v3: 12-65964334-TCTCTCTTC-T
gnomAD v4: 12-65964334-TCTCTCTTC-T
MyVariant Identifiers: chr12:g.66358115_66358122del (hg19) chr12:g.65964335_65964342del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964340_65964347del , CM000674.2:g.65964340_65964347del GRCh38
NC_000012.11:g.66358120_66358127del , CM000674.1:g.66358120_66358127del GRCh37
NC_000012.10:g.64644387_64644394del NCBI36
NG_016296.1:g.144881_144888del

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*1048_*1055del MANE Select ENSP00000384026.2:n.*1048_*1055del
ENST00000403681.6:c.*1048_*1055del ENSP00000384026.2:n.*1048_*1055del
NM_003483.4:c.*1048_*1055del NP_003474.1:n.*1048_*1055del
NM_003483.6:c.*1048_*1055del MANE Select NP_003474.1:n.*1048_*1055del
Search 100 bp 5'
Search 100 bp 3'