Canonical Allele Identifier: CA2619689508
Gene: HMGA2 HGNC NCBI

Linked Data

gnomAD v4: 12-65958000-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65958000C>A , CM000674.2:g.65958000C>A GRCh38
NC_000012.11:g.66351780C>A , CM000674.1:g.66351780C>A GRCh37
NC_000012.10:g.64638047C>A NCBI36
NG_016296.1:g.138541C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000403681.7:c.283-5245C>A MANE Select ENSP00000384026.2:n.283-5245C>A
ENST00000403681.6:c.283-5245C>A ENSP00000384026.2:n.283-5245C>A
ENST00000539662.1:c.320-5245C>A ENSP00000440919.1:n.320-5245C>A
ENST00000541363.5:c.*6567C>A ENSP00000439317.1:n.*6567C>A
NM_003483.4:c.283-5245C>A NP_003474.1:n.283-5245C>A
NM_003483.6:c.283-5245C>A MANE Select NP_003474.1:n.283-5245C>A
Search 100 bp 5'
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