Canonical Allele Identifier: CA2619689095
Gene: HMGA2 HGNC NCBI

Linked Data

gnomAD v4: 12-65955970-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65955970T>C , CM000674.2:g.65955970T>C GRCh38
NC_000012.11:g.66349750T>C , CM000674.1:g.66349750T>C GRCh37
NC_000012.10:g.64636017T>C NCBI36
NG_016296.1:g.136511T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403681.7:c.282+4555T>C MANE Select ENSP00000384026.2:n.282+4555T>C
ENST00000403681.6:c.282+4555T>C ENSP00000384026.2:n.282+4555T>C
ENST00000539662.1:c.319+4555T>C ENSP00000440919.1:n.319+4555T>C
ENST00000541363.5:c.*4537T>C ENSP00000439317.1:n.*4537T>C
NM_003483.4:c.282+4555T>C NP_003474.1:n.282+4555T>C
NM_003483.6:c.282+4555T>C MANE Select NP_003474.1:n.282+4555T>C
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