Canonical Allele Identifier: CA948666998

Gene: HMGA2

Linked Data

• dbSNP Id: rs1876410524
• gnomAD v3: 12-65950203-C-CGGG
• gnomAD v4: 12-65950203-C-CGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65950203_65950204insGGG , CM000674.2:g.65950203_65950204insGGG	GRCh38
NC_000012.11:g.66343983_66343984insGGG , CM000674.1:g.66343983_66343984insGGG	GRCh37
NC_000012.10:g.64630250_64630251insGGG	NCBI36
NG_016296.1:g.130744_130745insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403681.7:c.250-1180_250-1179insGGG MANE Select	ENSP00000384026.2:n.250-1180_250-1179insGGG
ENST00000393577.7:c.250-1180_250-1179insGGG	ENSP00000377205.3:n.250-1180_250-1179insGGG
ENST00000403681.6:c.250-1180_250-1179insGGG	ENSP00000384026.2:n.250-1180_250-1179insGGG
ENST00000539662.1:c.287-1180_287-1179insGGG	ENSP00000440919.1:n.287-1180_287-1179insGGG
ENST00000541363.5:c.250-1180_250-1179insGGG	ENSP00000439317.1:n.250-1180_250-1179insGGG
NM_001300918.1:c.250-1180_250-1179insGGG	NP_001287847.1:n.250-1180_250-1179insGGG
NM_003483.4:c.250-1180_250-1179insGGG	NP_003474.1:n.250-1180_250-1179insGGG
NM_003483.6:c.250-1180_250-1179insGGG MANE Select	NP_003474.1:n.250-1180_250-1179insGGG