Canonical Allele Identifier: CA2042816473
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1876852248
gnomAD v4: 12-65964525-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964525C>T , CM000674.2:g.65964525C>T GRCh38
NC_000012.11:g.66358305C>T , CM000674.1:g.66358305C>T GRCh37
NC_000012.10:g.64644572C>T NCBI36
NG_016296.1:g.145066C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*1233C>T MANE Select ENSP00000384026.2:n.*1233C>T
ENST00000403681.6:c.*1233C>T ENSP00000384026.2:n.*1233C>T
NM_003483.4:c.*1233C>T NP_003474.1:n.*1233C>T
NM_003483.6:c.*1233C>T MANE Select NP_003474.1:n.*1233C>T
Search 100 bp 5'
Search 100 bp 3'