Canonical Allele Identifier: CA1400715133

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1017513
• ClinVar RCV Id: RCV001316672
• dbSNP Id: rs2068633920

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481872_128481922dup , CM000665.2:g.128481872_128481922dup	GRCh38
NC_000003.11:g.128200715_128200765dup , CM000665.1:g.128200715_128200765dup	GRCh37
NC_000003.10:g.129683405_129683455dup	NCBI36
NG_029334.1:g.16268_16318dup , LRG_295:g.16268_16318dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1042_1092dup MANE Plus Clinical	ENSP00000417074.1:p.Ala364_Asn365insCysCysAlaAsnCysGlnThrThrT...
ENST00000696466.1:c.1324_1374dup	ENSP00000512647.1:p.Ala458_Asn459insCysCysAlaAsnCysGlnThrThrT...
ENST00000696672.1:c.25_75dup	ENSP00000512796.1:p.Ala25_Asn26insCysCysAlaAsnCysGlnThrThrThr...
ENST00000341105.7:c.1042_1092dup MANE Select	ENSP00000345681.2:p.Ala364_Asn365insCysCysAlaAsnCysGlnThrThrT...
ENST00000341105.6:c.1042_1092dup	ENSP00000345681.2:p.Ala364_Asn365insCysCysAlaAsnCysGlnThrThrT...
ENST00000430265.6:c.1018-18_1050dup
ENST00000487848.5:c.1042_1092dup	ENSP00000417074.1:p.Ala364_Asn365insCysCysAlaAsnCysGlnThrThrT...
ENST00000489987.1:n.159_209dup
NM_001145661.1:c.1042_1092dup , LRG_295t1:c.1042_1092dup	NP_001139133.1:p.Ala364_Asn365insCysCysAlaAsnCysGlnThrThrThrT...
NM_001145662.1:c.1018-18_1050dup
NM_032638.4:c.1042_1092dup , LRG_295t2:c.1042_1092dup	NP_116027.2:p.Ala364_Asn365insCysCysAlaAsnCysGlnThrThrThrThrT...
NM_001145661.2:c.1042_1092dup MANE Plus Clinical	NP_001139133.1:p.Ala364_Asn365insCysCysAlaAsnCysGlnThrThrThrT...
NM_032638.5:c.1042_1092dup MANE Select	NP_116027.2:p.Ala364_Asn365insCysCysAlaAsnCysGlnThrThrThrThrT...