Canonical Allele Identifier: CA658820610

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483888_128483891dup , CM000665.2:g.128483888_128483891dup	GRCh38
NC_000003.11:g.128202731_128202734dup , CM000665.1:g.128202731_128202734dup	GRCh37
NC_000003.10:g.129685421_129685424dup	NCBI36
NG_029334.1:g.14300_14303dup , LRG_295:g.14300_14303dup

Transcript Alleles

HGVS	Amino-acid Change
NM_032638.5:c.989_992dup MANE Select	NP_116027.2:p.Leu332ThrfsTer?
ENST00000341105.7:c.989_992dup MANE Select	ENSP00000345681.2:p.Leu332ThrfsTer?
NM_001145661.2:c.989_992dup MANE Plus Clinical	NP_001139133.1:p.Leu332ThrfsTer?
ENST00000487848.6:c.989_992dup MANE Plus Clinical	ENSP00000417074.1:p.Leu332ThrfsTer?
NM_001145661.1:c.989_992dup , LRG_295t1:c.989_992dup	NP_001139133.1:p.Leu332ThrfsTer?
NM_001145662.1:c.989_992dup	NP_001139134.1:p.Leu332ThrfsTer?
NM_032638.4:c.989_992dup , LRG_295t2:c.989_992dup	NP_116027.2:p.Leu332ThrfsTer?
ENST00000341105.6:c.989_992dup	ENSP00000345681.2:p.Leu332ThrfsTer?
ENST00000430265.6:c.989_992dup	ENSP00000400259.2:p.Leu332ThrfsTer?
ENST00000487848.5:c.989_992dup	ENSP00000417074.1:p.Leu332ThrfsTer?
ENST00000696466.1:c.1271_1274dup	ENSP00000512647.1:p.Leu426ThrfsTer?