Canonical Allele Identifier: CA238995664
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1024582331
gnomAD v2: 12-66351754-C-T
gnomAD v3: 12-65957974-C-T
gnomAD v4: 12-65957974-C-T
MyVariant Identifiers: chr12:g.66351754C>T (hg19) chr12:g.65957974C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65957974C>T , CM000674.2:g.65957974C>T GRCh38
NC_000012.11:g.66351754C>T , CM000674.1:g.66351754C>T GRCh37
NC_000012.10:g.64638021C>T NCBI36
NG_016296.1:g.138515C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000403681.7:c.283-5271C>T MANE Select ENSP00000384026.2:n.283-5271C>T
ENST00000403681.6:c.283-5271C>T ENSP00000384026.2:n.283-5271C>T
ENST00000539662.1:c.320-5271C>T ENSP00000440919.1:n.320-5271C>T
ENST00000541363.5:c.*6541C>T ENSP00000439317.1:n.*6541C>T
NM_003483.4:c.283-5271C>T NP_003474.1:n.283-5271C>T
NM_003483.6:c.283-5271C>T MANE Select NP_003474.1:n.283-5271C>T
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