Canonical Allele Identifier: CA2739311561
Community Standard Title: NM_003483.6(HMGA2):c.198+2594A>G
Gene: HMGA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65830681A>G , CM000674.2:g.65830681A>G GRCh38
NC_000012.11:g.66224461A>G , CM000674.1:g.66224461A>G GRCh37
NC_000012.10:g.64510728A>G NCBI36
NG_016296.1:g.11222A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003483.6:c.198+2594A>G MANE Select NP_003474.1:n.198+2594A>G
ENST00000403681.7:c.198+2594A>G MANE Select ENSP00000384026.2:n.198+2594A>G
NM_001300918.1:c.198+2594A>G NP_001287847.1:n.198+2594A>G
NM_001300919.1:c.198+2594A>G NP_001287848.1:n.198+2594A>G
NM_001330190.1:c.198+2594A>G NP_001317119.1:n.198+2594A>G
NM_003483.4:c.198+2594A>G NP_003474.1:n.198+2594A>G
NM_003484.1:c.198+2594A>G NP_003475.1:n.198+2594A>G
ENST00000354636.7:c.198+2594A>G ENSP00000346658.3:n.198+2594A>G
ENST00000393577.7:c.198+2594A>G ENSP00000377205.3:n.198+2594A>G
ENST00000393578.7:c.198+2594A>G ENSP00000377206.3:n.198+2594A>G
ENST00000403681.6:c.198+2594A>G ENSP00000384026.2:n.198+2594A>G
ENST00000425208.6:c.198+2594A>G ENSP00000407306.2:n.198+2594A>G
ENST00000536545.5:c.198+2594A>G ENSP00000437621.1:n.198+2594A>G
ENST00000537275.5:c.198+2594A>G ENSP00000437747.1:n.198+2594A>G
ENST00000537429.5:c.198+2594A>G ENSP00000443372.1:n.198+2594A>G
ENST00000539662.1:c.87+2594A>G ENSP00000440919.1:n.87+2594A>G
ENST00000541363.5:c.198+2594A>G ENSP00000439317.1:n.198+2594A>G