Canonical Allele Identifier: CA238995655
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs572142673
gnomAD v3: 12-65957887-G-GT
gnomAD v4: 12-65957887-G-GT
MyVariant Identifiers: chr12:g.66351667_66351668insT (hg19) chr12:g.65957887_65957888insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65957894dup , CM000674.2:g.65957894dup GRCh38
NC_000012.11:g.66351674dup , CM000674.1:g.66351674dup GRCh37
NC_000012.10:g.64637941dup NCBI36
NG_016296.1:g.138435dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.283-5351dup MANE Select ENSP00000384026.2:n.283-5351dup
ENST00000403681.6:c.283-5351dup ENSP00000384026.2:n.283-5351dup
ENST00000539662.1:c.320-5351dup ENSP00000440919.1:n.320-5351dup
ENST00000541363.5:c.*6461dup ENSP00000439317.1:n.*6461dup
NM_003483.4:c.283-5351dup NP_003474.1:n.283-5351dup
NM_003483.6:c.283-5351dup MANE Select NP_003474.1:n.283-5351dup
Search 100 bp 5'
Search 100 bp 3'