Canonical Allele Identifier: CA1400713268

Gene: GATA2

Linked Data

• dbSNP Id: rs2068613819

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480645_128480647del , CM000665.2:g.128480645_128480647del	GRCh38
NC_000003.11:g.128199488_128199490del , CM000665.1:g.128199488_128199490del	GRCh37
NC_000003.10:g.129682178_129682180del	NCBI36
NG_029334.1:g.17545_17547del , LRG_295:g.17545_17547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*376_*378del MANE Plus Clinical	ENSP00000417074.1:n.*376_*378del
ENST00000696466.1:c.*376_*378del	ENSP00000512647.1:n.*376_*378del
ENST00000696672.1:c.794_796del	ENSP00000512796.1:n.794_796del
ENST00000341105.7:c.*376_*378del MANE Select	ENSP00000345681.2:n.*376_*378del
ENST00000341105.6:c.*376_*378del	ENSP00000345681.2:n.*376_*378del
ENST00000430265.6:c.*376_*378del	ENSP00000400259.2:n.*376_*378del
ENST00000489987.1:n.936_938del
NM_001145661.1:c.*376_*378del , LRG_295t1:c.*376_*378del	NP_001139133.1:n.*376_*378del
NM_001145662.1:c.*376_*378del	NP_001139134.1:n.*376_*378del
NM_032638.4:c.*376_*378del , LRG_295t2:c.*376_*378del	NP_116027.2:n.*376_*378del
NM_001145661.2:c.*376_*378del MANE Plus Clinical	NP_001139133.1:n.*376_*378del
NM_032638.5:c.*376_*378del MANE Select	NP_116027.2:n.*376_*378del