Canonical Allele Identifier: CA2580068710
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2011604
ClinVar RCV Id: RCV002838536

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481878_128481934dup , CM000665.2:g.128481878_128481934dup GRCh38
NC_000003.11:g.128200721_128200777dup , CM000665.1:g.128200721_128200777dup GRCh37
NC_000003.10:g.129683411_129683467dup NCBI36
NG_029334.1:g.16257_16313dup , LRG_295:g.16257_16313dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1031_1087dup MANE Plus Clinical ENSP00000417074.1:p.Arg362_Asn363insArgAlaGlyThrCysCysAlaAsnC...
ENST00000696466.1:c.1313_1369dup ENSP00000512647.1:p.Arg456_Asn457insArgAlaGlyThrCysCysAlaAsnC...
ENST00000696672.1:c.14_70dup ENSP00000512796.1:p.Arg23_Asn24insArgAlaGlyThrCysCysAlaAsnCys...
ENST00000341105.7:c.1031_1087dup MANE Select ENSP00000345681.2:p.Arg362_Asn363insArgAlaGlyThrCysCysAlaAsnC...
ENST00000341105.6:c.1031_1087dup ENSP00000345681.2:p.Arg362_Asn363insArgAlaGlyThrCysCysAlaAsnC...
ENST00000430265.6:c.1018-29_1045dup
ENST00000487848.5:c.1031_1087dup ENSP00000417074.1:p.Arg362_Asn363insArgAlaGlyThrCysCysAlaAsnC...
ENST00000489987.1:n.148_204dup
NM_001145661.1:c.1031_1087dup , LRG_295t1:c.1031_1087dup NP_001139133.1:p.Arg362_Asn363insArgAlaGlyThrCysCysAlaAsnCysG...
NM_001145662.1:c.1018-29_1045dup
NM_032638.4:c.1031_1087dup , LRG_295t2:c.1031_1087dup NP_116027.2:p.Arg362_Asn363insArgAlaGlyThrCysCysAlaAsnCysGlnT...
NM_001145661.2:c.1031_1087dup MANE Plus Clinical NP_001139133.1:p.Arg362_Asn363insArgAlaGlyThrCysCysAlaAsnCysG...
NM_032638.5:c.1031_1087dup MANE Select NP_116027.2:p.Arg362_Asn363insArgAlaGlyThrCysCysAlaAsnCysGlnT...