Canonical Allele Identifier: CA238995673

Gene: HMGA2

Linked Data

• dbSNP Id: rs74097840
• gnomAD v2: 12-66351818-T-C
• gnomAD v3: 12-65958038-T-C
• gnomAD v4: 12-65958038-T-C
• MyVariant Identifiers: chr12:g.66351818T>C (hg19) ; chr12:g.65958038T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65958038T>C , CM000674.2:g.65958038T>C	GRCh38
NC_000012.11:g.66351818T>C , CM000674.1:g.66351818T>C	GRCh37
NC_000012.10:g.64638085T>C	NCBI36
NG_016296.1:g.138579T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403681.7:c.283-5207T>C MANE Select	ENSP00000384026.2:n.283-5207T>C
ENST00000403681.6:c.283-5207T>C	ENSP00000384026.2:n.283-5207T>C
ENST00000539662.1:c.320-5207T>C	ENSP00000440919.1:n.320-5207T>C
ENST00000541363.5:c.*6605T>C	ENSP00000439317.1:n.*6605T>C
NM_003483.4:c.283-5207T>C	NP_003474.1:n.283-5207T>C
NM_003483.6:c.283-5207T>C MANE Select	NP_003474.1:n.283-5207T>C