Canonical Allele Identifier: CA1139654931

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184244
• ClinVar RCV Id: RCV001542230
• dbSNP Id: rs2107668655

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481867_128481896del , CM000665.2:g.128481867_128481896del	GRCh38
NC_000003.11:g.128200710_128200739del , CM000665.1:g.128200710_128200739del	GRCh37
NC_000003.10:g.129683400_129683429del	NCBI36
NG_029334.1:g.16292_16321del , LRG_295:g.16292_16321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1066_1095del MANE Plus Clinical	ENSP00000417074.1:p.Thr356_Asn365del
ENST00000696466.1:c.1348_1377del	ENSP00000512647.1:p.Thr450_Asn459del
ENST00000696672.1:c.49_78del	ENSP00000512796.1:p.Thr17_Asn26del
ENST00000341105.7:c.1066_1095del MANE Select	ENSP00000345681.2:p.Thr356_Asn365del
ENST00000341105.6:c.1066_1095del	ENSP00000345681.2:p.Thr356_Asn365del
ENST00000430265.6:c.1024_1053del	ENSP00000400259.2:p.Thr342_Asn351del
ENST00000487848.5:c.1066_1095del	ENSP00000417074.1:p.Thr356_Asn365del
ENST00000489987.1:n.183_212del
NM_001145661.1:c.1066_1095del , LRG_295t1:c.1066_1095del	NP_001139133.1:p.Thr356_Asn365del
NM_001145662.1:c.1024_1053del	NP_001139134.1:p.Thr342_Asn351del
NM_032638.4:c.1066_1095del , LRG_295t2:c.1066_1095del	NP_116027.2:p.Thr356_Asn365del
NM_001145661.2:c.1066_1095del MANE Plus Clinical	NP_001139133.1:p.Thr356_Asn365del
NM_032638.5:c.1066_1095del MANE Select	NP_116027.2:p.Thr356_Asn365del