Canonical Allele Identifier: CA238994863

Gene: HMGA2

Linked Data

• dbSNP Id: rs757063873
• gnomAD v2: 12-66343911-T-C
• gnomAD v3: 12-65950131-T-C
• gnomAD v4: 12-65950131-T-C
• MyVariant Identifiers: chr12:g.66343911T>C (hg19) ; chr12:g.65950131T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65950131T>C , CM000674.2:g.65950131T>C	GRCh38
NC_000012.11:g.66343911T>C , CM000674.1:g.66343911T>C	GRCh37
NC_000012.10:g.64630178T>C	NCBI36
NG_016296.1:g.130672T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000403681.7:c.250-1252T>C MANE Select	ENSP00000384026.2:n.250-1252T>C
ENST00000393577.7:c.250-1252T>C	ENSP00000377205.3:n.250-1252T>C
ENST00000403681.6:c.250-1252T>C	ENSP00000384026.2:n.250-1252T>C
ENST00000539662.1:c.287-1252T>C	ENSP00000440919.1:n.287-1252T>C
ENST00000541363.5:c.250-1252T>C	ENSP00000439317.1:n.250-1252T>C
NM_001300918.1:c.250-1252T>C	NP_001287847.1:n.250-1252T>C
NM_003483.4:c.250-1252T>C	NP_003474.1:n.250-1252T>C
NM_003483.6:c.250-1252T>C MANE Select	NP_003474.1:n.250-1252T>C