Canonical Allele Identifier: CA385678829

Gene: HMGA2

Linked Data

• ClinVar Variation Id: 253034
• ClinVar RCV Id: RCV000491113 ; RCV001174518 ; RCV003223633
• dbSNP Id: rs1114167319
• MyVariant Identifiers: chr12:g.66221862C>T (hg19) ; chr12:g.65828082C>T (hg38)
• PubMed: PMID:28796236

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65828082C>T , CM000674.2:g.65828082C>T	GRCh38
NC_000012.11:g.66221862C>T , CM000674.1:g.66221862C>T	GRCh37
NC_000012.10:g.64508129C>T	NCBI36
NG_016296.1:g.8623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403681.7:c.193C>T MANE Select	ENSP00000384026.2:p.Gln65Ter
ENST00000354636.7:c.193C>T	ENSP00000346658.3:p.Gln65Ter
ENST00000393577.7:c.193C>T	ENSP00000377205.3:p.Gln65Ter
ENST00000393578.7:c.193C>T	ENSP00000377206.3:p.Gln65Ter
ENST00000403681.6:c.193C>T	ENSP00000384026.2:p.Gln65Ter
ENST00000425208.6:c.193C>T	ENSP00000407306.2:p.Gln65Ter
ENST00000536545.5:c.193C>T	ENSP00000437621.1:p.Gln65Ter
ENST00000537275.5:c.193C>T	ENSP00000437747.1:p.Gln65Ter
ENST00000537429.5:c.193C>T	ENSP00000443372.1:p.Gln65Ter
ENST00000539662.1:c.82C>T	ENSP00000440919.1:p.Gln28Ter
ENST00000541363.5:c.193C>T	ENSP00000439317.1:p.Gln65Ter
ENST00000545998.1:n.653C>T
NM_001300918.1:c.193C>T	NP_001287847.1:p.Gln65Ter
NM_001300919.1:c.193C>T	NP_001287848.1:p.Gln65Ter
NM_003483.4:c.193C>T	NP_003474.1:p.Gln65Ter
NM_003484.1:c.193C>T	NP_003475.1:p.Gln65Ter
NM_001330190.1:c.193C>T	NP_001317119.1:p.Gln65Ter
NM_003483.6:c.193C>T MANE Select	NP_003474.1:p.Gln65Ter