Canonical Allele Identifier: CA2740090994

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2946891
• ClinVar RCV Id: RCV003809129

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481881_128481882dup , CM000665.2:g.128481881_128481882dup	GRCh38
NC_000003.11:g.128200724_128200725dup , CM000665.1:g.128200724_128200725dup	GRCh37
NC_000003.10:g.129683414_129683415dup	NCBI36
NG_029334.1:g.16308_16309dup , LRG_295:g.16308_16309dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1082_1083dup MANE Plus Clinical	ENSP00000417074.1:p.Arg362AlafsTer26
ENST00000696466.1:c.1364_1365dup	ENSP00000512647.1:p.Arg456AlafsTer26
ENST00000696672.1:c.65_66dup	ENSP00000512796.1:p.Arg23AlafsTer?
ENST00000341105.7:c.1082_1083dup MANE Select	ENSP00000345681.2:p.Arg362AlafsTer26
ENST00000341105.6:c.1082_1083dup	ENSP00000345681.2:p.Arg362AlafsTer26
ENST00000430265.6:c.1040_1041dup	ENSP00000400259.2:p.Arg348AlafsTer26
ENST00000487848.5:c.1082_1083dup	ENSP00000417074.1:p.Arg362AlafsTer26
ENST00000489987.1:n.199_200dup
NM_001145661.1:c.1082_1083dup , LRG_295t1:c.1082_1083dup	NP_001139133.1:p.Arg362AlafsTer26
NM_001145662.1:c.1040_1041dup	NP_001139134.1:p.Arg348AlafsTer26
NM_032638.4:c.1082_1083dup , LRG_295t2:c.1082_1083dup	NP_116027.2:p.Arg362AlafsTer26
NM_001145661.2:c.1082_1083dup MANE Plus Clinical	NP_001139133.1:p.Arg362AlafsTer26
NM_032638.5:c.1082_1083dup MANE Select	NP_116027.2:p.Arg362AlafsTer26