Canonical Allele Identifier: CA948666928

Gene: HMGA2

Linked Data

• dbSNP Id: rs1876400533
• gnomAD v3: 12-65949957-ACAT-A
• gnomAD v4: 12-65949957-ACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65949961_65949963del , CM000674.2:g.65949961_65949963del	GRCh38
NC_000012.11:g.66343741_66343743del , CM000674.1:g.66343741_66343743del	GRCh37
NC_000012.10:g.64630008_64630010del	NCBI36
NG_016296.1:g.130502_130504del

Transcript Alleles

HGVS	Amino-acid change
ENST00000403681.7:c.250-1422_250-1420del MANE Select	ENSP00000384026.2:n.250-1422_250-1420del
ENST00000393577.7:c.250-1422_250-1420del	ENSP00000377205.3:n.250-1422_250-1420del
ENST00000403681.6:c.250-1422_250-1420del	ENSP00000384026.2:n.250-1422_250-1420del
ENST00000539662.1:c.287-1422_287-1420del	ENSP00000440919.1:n.287-1422_287-1420del
ENST00000541363.5:c.250-1422_250-1420del	ENSP00000439317.1:n.250-1422_250-1420del
NM_001300918.1:c.250-1422_250-1420del	NP_001287847.1:n.250-1422_250-1420del
NM_003483.4:c.250-1422_250-1420del	NP_003474.1:n.250-1422_250-1420del
NM_003483.6:c.250-1422_250-1420del MANE Select	NP_003474.1:n.250-1422_250-1420del