Canonical Allele Identifier: CA1053362150

Gene: GATA2

Linked Data

• dbSNP Id: rs2068653667
• gnomAD v3: 3-128483266-ACT-A
• gnomAD v4: 3-128483266-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483269_128483270del , CM000665.2:g.128483269_128483270del	GRCh38
NC_000003.11:g.128202112_128202113del , CM000665.1:g.128202112_128202113del	GRCh37
NC_000003.10:g.129684802_129684803del	NCBI36
NG_029334.1:g.14920_14921del , LRG_295:g.14920_14921del

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1017+592_1017+593del MANE Plus Clinical	ENSP00000417074.1:n.1017+592_1017+593del
ENST00000696466.1:c.1299+592_1299+593del	ENSP00000512647.1:n.1299+592_1299+593del
ENST00000341105.7:c.1017+592_1017+593del MANE Select	ENSP00000345681.2:n.1017+592_1017+593del
ENST00000341105.6:c.1017+592_1017+593del	ENSP00000345681.2:n.1017+592_1017+593del
ENST00000430265.6:c.1017+592_1017+593del	ENSP00000400259.2:n.1017+592_1017+593del
ENST00000487848.5:c.1017+592_1017+593del	ENSP00000417074.1:n.1017+592_1017+593del
NM_001145661.1:c.1017+592_1017+593del , LRG_295t1:c.1017+592_1017+593del	NP_001139133.1:n.1017+592_1017+593del
NM_001145662.1:c.1017+592_1017+593del	NP_001139134.1:n.1017+592_1017+593del
NM_032638.4:c.1017+592_1017+593del , LRG_295t2:c.1017+592_1017+593del	NP_116027.2:n.1017+592_1017+593del
NM_001145661.2:c.1017+592_1017+593del MANE Plus Clinical	NP_001139133.1:n.1017+592_1017+593del
NM_032638.5:c.1017+592_1017+593del MANE Select	NP_116027.2:n.1017+592_1017+593del