Canonical Allele Identifier: CA1053352897

Gene: GATA2 GATA2-AS1

Linked Data

• dbSNP Id: rs2068791190
• gnomAD v3: 3-128492604-GGGCC-G
• gnomAD v4: 3-128492604-GGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128492607_128492610del , CM000665.2:g.128492607_128492610del	GRCh38
NC_000003.11:g.128211450_128211453del , CM000665.1:g.128211450_128211453del	GRCh37
NC_000003.10:g.129694140_129694143del	NCBI36
NG_029334.1:g.5580_5583del , LRG_295:g.5580_5583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696466.1:c.-194+291_-194+294del (GATA2)	ENSP00000512647.1:n.-194+291_-194+294del
ENST00000696654.1:c.-599+291_-599+294del (GATA2)	ENSP00000512783.1:n.-599+291_-599+294del
ENST00000696655.1:n.288+291_288+294del (GATA2)
ENST00000341105.7:c.-46+291_-46+294del (GATA2) MANE Select	ENSP00000345681.2:n.-46+291_-46+294del
ENST00000341105.6:c.-46+291_-46+294del (GATA2)	ENSP00000345681.2:n.-46+291_-46+294del
ENST00000498200.1:c.-265+291_-265+294del (GATA2)	ENSP00000419532.1:n.-265+291_-265+294del
NM_032638.4:c.-46+291_-46+294del , LRG_295t2:c.-46+291_-46+294del (GATA2)	NP_116027.2:n.-46+291_-46+294del
NR_125398.1:n.759+2538_759+2541del (GATA2-AS1)
NM_032638.5:c.-46+291_-46+294del (GATA2) MANE Select	NP_116027.2:n.-46+291_-46+294del