Canonical Allele Identifier: CA605680895

Gene: HMGA2

Linked Data

• dbSNP Id: rs1267144569
• gnomAD v2: 12-66358286-G-T
• gnomAD v3: 12-65964506-G-T
• gnomAD v4: 12-65964506-G-T
• MyVariant Identifiers: chr12:g.66358286G>T (hg19) ; chr12:g.65964506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65964506G>T , CM000674.2:g.65964506G>T	GRCh38
NC_000012.11:g.66358286G>T , CM000674.1:g.66358286G>T	GRCh37
NC_000012.10:g.64644553G>T	NCBI36
NG_016296.1:g.145047G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000403681.7:c.*1214G>T MANE Select	ENSP00000384026.2:n.*1214G>T
ENST00000403681.6:c.*1214G>T	ENSP00000384026.2:n.*1214G>T
NM_003483.4:c.*1214G>T	NP_003474.1:n.*1214G>T
NM_003483.6:c.*1214G>T MANE Select	NP_003474.1:n.*1214G>T