Canonical Allele Identifier: CA2042783305
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1876409835

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65950187C>T , CM000674.2:g.65950187C>T GRCh38
NC_000012.11:g.66343967C>T , CM000674.1:g.66343967C>T GRCh37
NC_000012.10:g.64630234C>T NCBI36
NG_016296.1:g.130728C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.250-1196C>T MANE Select ENSP00000384026.2:n.250-1196C>T
ENST00000393577.7:c.250-1196C>T ENSP00000377205.3:n.250-1196C>T
ENST00000403681.6:c.250-1196C>T ENSP00000384026.2:n.250-1196C>T
ENST00000539662.1:c.287-1196C>T ENSP00000440919.1:n.287-1196C>T
ENST00000541363.5:c.250-1196C>T ENSP00000439317.1:n.250-1196C>T
NM_001300918.1:c.250-1196C>T NP_001287847.1:n.250-1196C>T
NM_003483.4:c.250-1196C>T NP_003474.1:n.250-1196C>T
NM_003483.6:c.250-1196C>T MANE Select NP_003474.1:n.250-1196C>T