Canonical Allele Identifier: CA238995665
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs971612134
gnomAD v2: 12-66351759-T-A
gnomAD v3: 12-65957979-T-A
gnomAD v4: 12-65957979-T-A
MyVariant Identifiers: chr12:g.66351759T>A (hg19) chr12:g.65957979T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65957979T>A , CM000674.2:g.65957979T>A GRCh38
NC_000012.11:g.66351759T>A , CM000674.1:g.66351759T>A GRCh37
NC_000012.10:g.64638026T>A NCBI36
NG_016296.1:g.138520T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000403681.7:c.283-5266T>A MANE Select ENSP00000384026.2:n.283-5266T>A
ENST00000403681.6:c.283-5266T>A ENSP00000384026.2:n.283-5266T>A
ENST00000539662.1:c.320-5266T>A ENSP00000440919.1:n.320-5266T>A
ENST00000541363.5:c.*6546T>A ENSP00000439317.1:n.*6546T>A
NM_003483.4:c.283-5266T>A NP_003474.1:n.283-5266T>A
NM_003483.6:c.283-5266T>A MANE Select NP_003474.1:n.283-5266T>A
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