Canonical Allele Identifier: CA2499216440

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481929_128481930insCAGAGGC , CM000665.2:g.128481929_128481930insCAGAGGC	GRCh38
NC_000003.11:g.128200772_128200773insCAGAGGC , CM000665.1:g.128200772_128200773insCAGAGGC	GRCh37
NC_000003.10:g.129683462_129683463insCAGAGGC	NCBI36
NG_029334.1:g.16261_16262insTCTGGCC , LRG_295:g.16261_16262insTCTGGCC

Transcript Alleles

HGVS	Amino-acid Change
NM_032638.5:c.1035_1036insTCTGGCC MANE Select	NP_116027.2:p.Gly346SerfsTer?
ENST00000341105.7:c.1035_1036insTCTGGCC MANE Select	ENSP00000345681.2:p.Gly346SerfsTer?
NM_001145661.2:c.1035_1036insTCTGGCC MANE Plus Clinical	NP_001139133.1:p.Gly346SerfsTer?
ENST00000487848.6:c.1035_1036insTCTGGCC MANE Plus Clinical	ENSP00000417074.1:p.Gly346SerfsTer?
NM_001145661.1:c.1035_1036insTCTGGCC , LRG_295t1:c.1035_1036insTCTGGCC	NP_001139133.1:p.Gly346SerfsTer?
NM_001145662.1:c.1018-25_1018-24insTCTGGCC	NP_001139134.1:n.1018-25_1018-24insTCTGGCC
NM_032638.4:c.1035_1036insTCTGGCC , LRG_295t2:c.1035_1036insTCTGGCC	NP_116027.2:p.Gly346SerfsTer?
ENST00000341105.6:c.1035_1036insTCTGGCC	ENSP00000345681.2:p.Gly346SerfsTer?
ENST00000430265.6:c.1018-25_1018-24insTCTGGCC	ENSP00000400259.2:n.1018-25_1018-24insTCTGGCC
ENST00000487848.5:c.1035_1036insTCTGGCC	ENSP00000417074.1:p.Gly346SerfsTer?
ENST00000489987.1:n.152_153insTCTGGCC
ENST00000696466.1:c.1317_1318insTCTGGCC	ENSP00000512647.1:p.Gly440SerfsTer?
ENST00000696672.1:c.18_19insTCTGGCC	ENSP00000512796.1:p.Gly7SerfsTer?