Canonical Allele Identifier: CA948666989
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1876409541
gnomAD v3: 12-65950175-T-C
gnomAD v4: 12-65950175-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65950175T>C , CM000674.2:g.65950175T>C GRCh38
NC_000012.11:g.66343955T>C , CM000674.1:g.66343955T>C GRCh37
NC_000012.10:g.64630222T>C NCBI36
NG_016296.1:g.130716T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.250-1208T>C MANE Select ENSP00000384026.2:n.250-1208T>C
ENST00000393577.7:c.250-1208T>C ENSP00000377205.3:n.250-1208T>C
ENST00000403681.6:c.250-1208T>C ENSP00000384026.2:n.250-1208T>C
ENST00000539662.1:c.287-1208T>C ENSP00000440919.1:n.287-1208T>C
ENST00000541363.5:c.250-1208T>C ENSP00000439317.1:n.250-1208T>C
NM_001300918.1:c.250-1208T>C NP_001287847.1:n.250-1208T>C
NM_003483.4:c.250-1208T>C NP_003474.1:n.250-1208T>C
NM_003483.6:c.250-1208T>C MANE Select NP_003474.1:n.250-1208T>C
Search 100 bp 5'
Search 100 bp 3'