Canonical Allele Identifier: CA2619689502

Gene: HMGA2

Linked Data

• gnomAD v4: 12-65957988-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65957988A>G , CM000674.2:g.65957988A>G	GRCh38
NC_000012.11:g.66351768A>G , CM000674.1:g.66351768A>G	GRCh37
NC_000012.10:g.64638035A>G	NCBI36
NG_016296.1:g.138529A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000403681.7:c.283-5257A>G MANE Select	ENSP00000384026.2:n.283-5257A>G
ENST00000403681.6:c.283-5257A>G	ENSP00000384026.2:n.283-5257A>G
ENST00000539662.1:c.320-5257A>G	ENSP00000440919.1:n.320-5257A>G
ENST00000541363.5:c.*6555A>G	ENSP00000439317.1:n.*6555A>G
NM_003483.4:c.283-5257A>G	NP_003474.1:n.283-5257A>G
NM_003483.6:c.283-5257A>G MANE Select	NP_003474.1:n.283-5257A>G