Canonical Allele Identifier: CA691066211
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1159882231
gnomAD v3: 12-65964618-GA-G
gnomAD v4: 12-65964618-GA-G
MyVariant Identifiers: chr12:g.66358399del (hg19) chr12:g.65964619del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964625del , CM000674.2:g.65964625del GRCh38
NC_000012.11:g.66358405del , CM000674.1:g.66358405del GRCh37
NC_000012.10:g.64644672del NCBI36
NG_016296.1:g.145166del

Transcript Alleles

HGVS Amino-acid change
ENST00000403681.7:c.*1333del MANE Select ENSP00000384026.2:n.*1333del
ENST00000403681.6:c.*1333del ENSP00000384026.2:n.*1333del
NM_003483.4:c.*1333del NP_003474.1:n.*1333del
NM_003483.6:c.*1333del MANE Select NP_003474.1:n.*1333del
Search 100 bp 5'
Search 100 bp 3'