Canonical Allele Identifier: CA2838139419

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481183_128481184delinsCC , CM000665.2:g.128481183_128481184delinsCC	GRCh38
NC_000003.11:g.128200026_128200027delinsCC , CM000665.1:g.128200026_128200027delinsCC	GRCh37
NC_000003.10:g.129682716_129682717delinsCC	NCBI36
NG_029334.1:g.17004_17005delinsGG , LRG_295:g.17004_17005delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1278_1279delinsGG MANE Plus Clinical	ENSP00000417074.1:p.Pro427Ala
ENST00000696466.1:c.1560_1561delinsGG	ENSP00000512647.1:p.Pro521Ala
ENST00000696672.1:c.253_254delinsGG	ENSP00000512796.1:p.Pro85Gly
ENST00000341105.7:c.1278_1279delinsGG MANE Select	ENSP00000345681.2:p.Pro427Ala
ENST00000341105.6:c.1278_1279delinsGG	ENSP00000345681.2:p.Pro427Ala
ENST00000430265.6:c.1236_1237delinsGG	ENSP00000400259.2:p.Pro413Ala
ENST00000487848.5:c.1278_1279delinsGG	ENSP00000417074.1:p.Pro427Ala
ENST00000489987.1:n.395_396delinsGG
NM_001145661.1:c.1278_1279delinsGG , LRG_295t1:c.1278_1279delinsGG	NP_001139133.1:p.Pro427Ala
NM_001145662.1:c.1236_1237delinsGG	NP_001139134.1:p.Pro413Ala
NM_032638.4:c.1278_1279delinsGG , LRG_295t2:c.1278_1279delinsGG	NP_116027.2:p.Pro427Ala
NM_001145661.2:c.1278_1279delinsGG MANE Plus Clinical	NP_001139133.1:p.Pro427Ala
NM_032638.5:c.1278_1279delinsGG MANE Select	NP_116027.2:p.Pro427Ala