Canonical Allele Identifier: CA691066705

Gene: HMGA2

Linked Data

• dbSNP Id: rs1185920842
• gnomAD v3: 12-65965973-A-C
• gnomAD v4: 12-65965973-A-C
• MyVariant Identifiers: chr12:g.66359753A>C (hg19) ; chr12:g.65965973A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65965973A>C , CM000674.2:g.65965973A>C	GRCh38
NC_000012.11:g.66359753A>C , CM000674.1:g.66359753A>C	GRCh37
NC_000012.10:g.64646020A>C	NCBI36
NG_016296.1:g.146514A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403681.7:c.*2681A>C MANE Select	ENSP00000384026.2:n.*2681A>C
ENST00000403681.6:c.*2681A>C	ENSP00000384026.2:n.*2681A>C
NM_003483.4:c.*2681A>C	NP_003474.1:n.*2681A>C
NM_003483.6:c.*2681A>C MANE Select	NP_003474.1:n.*2681A>C