Canonical Allele Identifier: CA691060121

Gene: HMGA2

Linked Data

• dbSNP Id: rs1458652235
• gnomAD v3: 12-65950063-A-T
• gnomAD v4: 12-65950063-A-T
• MyVariant Identifiers: chr12:g.66343843A>T (hg19) ; chr12:g.65950063A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65950063A>T , CM000674.2:g.65950063A>T	GRCh38
NC_000012.11:g.66343843A>T , CM000674.1:g.66343843A>T	GRCh37
NC_000012.10:g.64630110A>T	NCBI36
NG_016296.1:g.130604A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000403681.7:c.250-1320A>T MANE Select	ENSP00000384026.2:n.250-1320A>T
ENST00000393577.7:c.250-1320A>T	ENSP00000377205.3:n.250-1320A>T
ENST00000403681.6:c.250-1320A>T	ENSP00000384026.2:n.250-1320A>T
ENST00000539662.1:c.287-1320A>T	ENSP00000440919.1:n.287-1320A>T
ENST00000541363.5:c.250-1320A>T	ENSP00000439317.1:n.250-1320A>T
NM_001300918.1:c.250-1320A>T	NP_001287847.1:n.250-1320A>T
NM_003483.4:c.250-1320A>T	NP_003474.1:n.250-1320A>T
NM_003483.6:c.250-1320A>T MANE Select	NP_003474.1:n.250-1320A>T