Canonical Allele Identifier: CA915940577

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2130742
• ClinVar RCV Id: RCV003047846
• dbSNP Id: rs2068653601

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483263_128483265del , CM000665.2:g.128483263_128483265del	GRCh38
NC_000003.11:g.128202106_128202108del , CM000665.1:g.128202106_128202108del	GRCh37
NC_000003.10:g.129684796_129684798del	NCBI36
NG_029334.1:g.14926_14928del , LRG_295:g.14926_14928del

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1017+598_1017+600del MANE Plus Clinical	ENSP00000417074.1:n.1017+598_1017+600del
ENST00000696466.1:c.1299+598_1299+600del	ENSP00000512647.1:n.1299+598_1299+600del
ENST00000341105.7:c.1017+598_1017+600del MANE Select	ENSP00000345681.2:n.1017+598_1017+600del
ENST00000341105.6:c.1017+598_1017+600del	ENSP00000345681.2:n.1017+598_1017+600del
ENST00000430265.6:c.1017+598_1017+600del	ENSP00000400259.2:n.1017+598_1017+600del
ENST00000487848.5:c.1017+598_1017+600del	ENSP00000417074.1:n.1017+598_1017+600del
NM_001145661.1:c.1017+598_1017+600del , LRG_295t1:c.1017+598_1017+600del	NP_001139133.1:n.1017+598_1017+600del
NM_001145662.1:c.1017+598_1017+600del	NP_001139134.1:n.1017+598_1017+600del
NM_032638.4:c.1017+598_1017+600del , LRG_295t2:c.1017+598_1017+600del	NP_116027.2:n.1017+598_1017+600del
NM_001145661.2:c.1017+598_1017+600del MANE Plus Clinical	NP_001139133.1:n.1017+598_1017+600del
NM_032638.5:c.1017+598_1017+600del MANE Select	NP_116027.2:n.1017+598_1017+600del