Canonical Allele Identifier: CA691060020

Gene: HMGA2

Linked Data

• dbSNP Id: rs1467211891
• gnomAD v3: 12-65949727-GATATAACACA-G
• gnomAD v4: 12-65949727-GATATAACACA-G
• MyVariant Identifiers: chr12:g.66343508_66343517del (hg19) ; chr12:g.65949728_65949737del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65949742_65949751del , CM000674.2:g.65949742_65949751del	GRCh38
NC_000012.11:g.66343522_66343531del , CM000674.1:g.66343522_66343531del	GRCh37
NC_000012.10:g.64629789_64629798del	NCBI36
NG_016296.1:g.130283_130292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403681.7:c.250-1641_250-1632del MANE Select	ENSP00000384026.2:n.250-1641_250-1632del
ENST00000393577.7:c.250-1641_250-1632del	ENSP00000377205.3:n.250-1641_250-1632del
ENST00000403681.6:c.250-1641_250-1632del	ENSP00000384026.2:n.250-1641_250-1632del
ENST00000539662.1:c.287-1641_287-1632del	ENSP00000440919.1:n.287-1641_287-1632del
ENST00000541363.5:c.250-1641_250-1632del	ENSP00000439317.1:n.250-1641_250-1632del
NM_001300918.1:c.250-1641_250-1632del	NP_001287847.1:n.250-1641_250-1632del
NM_003483.4:c.250-1641_250-1632del	NP_003474.1:n.250-1641_250-1632del
NM_003483.6:c.250-1641_250-1632del MANE Select	NP_003474.1:n.250-1641_250-1632del