Canonical Allele Identifier: CA605680891
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1264150696
gnomAD v2: 12-66358115-CTCTCTT-C
gnomAD v3: 12-65964335-CTCTCTT-C
gnomAD v4: 12-65964335-CTCTCTT-C
MyVariant Identifiers: chr12:g.66358116_66358121del (hg19) chr12:g.65964336_65964341del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964336_65964341del , CM000674.2:g.65964336_65964341del GRCh38
NC_000012.11:g.66358116_66358121del , CM000674.1:g.66358116_66358121del GRCh37
NC_000012.10:g.64644383_64644388del NCBI36
NG_016296.1:g.144877_144882del

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*1044_*1049del MANE Select ENSP00000384026.2:n.*1044_*1049del
ENST00000403681.6:c.*1044_*1049del ENSP00000384026.2:n.*1044_*1049del
NM_003483.4:c.*1044_*1049del NP_003474.1:n.*1044_*1049del
NM_003483.6:c.*1044_*1049del MANE Select NP_003474.1:n.*1044_*1049del
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