Canonical Allele Identifier: CA2619689489

Gene: HMGA2

Linked Data

• gnomAD v4: 12-65957952-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65957952C>A , CM000674.2:g.65957952C>A	GRCh38
NC_000012.11:g.66351732C>A , CM000674.1:g.66351732C>A	GRCh37
NC_000012.10:g.64637999C>A	NCBI36
NG_016296.1:g.138493C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403681.7:c.283-5293C>A MANE Select	ENSP00000384026.2:n.283-5293C>A
ENST00000403681.6:c.283-5293C>A	ENSP00000384026.2:n.283-5293C>A
ENST00000539662.1:c.320-5293C>A	ENSP00000440919.1:n.320-5293C>A
ENST00000541363.5:c.*6519C>A	ENSP00000439317.1:n.*6519C>A
NM_003483.4:c.283-5293C>A	NP_003474.1:n.283-5293C>A
NM_003483.6:c.283-5293C>A MANE Select	NP_003474.1:n.283-5293C>A