Canonical Allele Identifier: CA2667539890

Gene: GATA2

Linked Data

• gnomAD v4: 3-128480656-AGTCCTTGTTAGAAACAAGAGCAAAATAAATTATTTTTGCCTAATCCTTTTTCCTTCTAAAAATGGTTGCCTTCGTCTGTCCCGTCCCCTCCTTTTCTCTACATAAAGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480666_128480774del , CM000665.2:g.128480666_128480774del	GRCh38
NC_000003.11:g.128199509_128199617del , CM000665.1:g.128199509_128199617del	GRCh37
NC_000003.10:g.129682199_129682307del	NCBI36
NG_029334.1:g.17423_17531del , LRG_295:g.17423_17531del

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.*254_*362del MANE Plus Clinical	ENSP00000417074.1:n.*254_*362del
ENST00000696466.1:c.*254_*362del	ENSP00000512647.1:n.*254_*362del
ENST00000696672.1:c.672_780del	ENSP00000512796.1:n.672_780del
ENST00000341105.7:c.*254_*362del MANE Select	ENSP00000345681.2:n.*254_*362del
ENST00000341105.6:c.*254_*362del	ENSP00000345681.2:n.*254_*362del
ENST00000430265.6:c.*254_*362del	ENSP00000400259.2:n.*254_*362del
ENST00000489987.1:n.814_922del
NM_001145661.1:c.*254_*362del , LRG_295t1:c.*254_*362del	NP_001139133.1:n.*254_*362del
NM_001145662.1:c.*254_*362del	NP_001139134.1:n.*254_*362del
NM_032638.4:c.*254_*362del , LRG_295t2:c.*254_*362del	NP_116027.2:n.*254_*362del
NM_001145661.2:c.*254_*362del MANE Plus Clinical	NP_001139133.1:n.*254_*362del
NM_032638.5:c.*254_*362del MANE Select	NP_116027.2:n.*254_*362del