Canonical Allele Identifier: CA1400715267

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481921_128481922delinsGG , CM000665.2:g.128481921_128481922delinsGG	GRCh38
NC_000003.11:g.128200764_128200765delinsGG , CM000665.1:g.128200764_128200765delinsGG	GRCh37
NC_000003.10:g.129683454_129683455delinsGG	NCBI36
NG_029334.1:g.16266_16267delinsCC , LRG_295:g.16266_16267delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1040_1041delinsCC MANE Plus Clinical	ENSP00000417074.1:p.Thr347=
ENST00000696466.1:c.1322_1323delinsCC	ENSP00000512647.1:p.Thr441=
ENST00000696672.1:c.23_24delinsCC	ENSP00000512796.1:p.Thr8=
ENST00000341105.7:c.1040_1041delinsCC MANE Select	ENSP00000345681.2:p.Thr347=
ENST00000341105.6:c.1040_1041delinsCC	ENSP00000345681.2:p.Thr347=
ENST00000430265.6:c.1018-20_1018-19delinsCC	ENSP00000400259.2:n.1018-20_1018-19delinsCC
ENST00000487848.5:c.1040_1041delinsCC	ENSP00000417074.1:p.Thr347=
ENST00000489987.1:n.157_158delinsCC
NM_001145661.1:c.1040_1041delinsCC , LRG_295t1:c.1040_1041delinsCC	NP_001139133.1:p.Thr347=
NM_001145662.1:c.1018-20_1018-19delinsCC	NP_001139134.1:n.1018-20_1018-19delinsCC
NM_032638.4:c.1040_1041delinsCC , LRG_295t2:c.1040_1041delinsCC	NP_116027.2:p.Thr347=
NM_001145661.2:c.1040_1041delinsCC MANE Plus Clinical	NP_001139133.1:p.Thr347=
NM_032638.5:c.1040_1041delinsCC MANE Select	NP_116027.2:p.Thr347=