Canonical Allele Identifier: CA2619689085
Gene: HMGA2 HGNC NCBI

Linked Data

gnomAD v4: 12-65955934-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65955934G>T , CM000674.2:g.65955934G>T GRCh38
NC_000012.11:g.66349714G>T , CM000674.1:g.66349714G>T GRCh37
NC_000012.10:g.64635981G>T NCBI36
NG_016296.1:g.136475G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000403681.7:c.282+4519G>T MANE Select ENSP00000384026.2:n.282+4519G>T
ENST00000403681.6:c.282+4519G>T ENSP00000384026.2:n.282+4519G>T
ENST00000539662.1:c.319+4519G>T ENSP00000440919.1:n.319+4519G>T
ENST00000541363.5:c.*4501G>T ENSP00000439317.1:n.*4501G>T
NM_003483.4:c.282+4519G>T NP_003474.1:n.282+4519G>T
NM_003483.6:c.282+4519G>T MANE Select NP_003474.1:n.282+4519G>T
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