Canonical Allele Identifier: CA2667539859

Gene: GATA2

Linked Data

• gnomAD v4: 3-128480630-GGACAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480631_128480636del , CM000665.2:g.128480631_128480636del	GRCh38
NC_000003.11:g.128199474_128199479del , CM000665.1:g.128199474_128199479del	GRCh37
NC_000003.10:g.129682164_129682169del	NCBI36
NG_029334.1:g.17552_17557del , LRG_295:g.17552_17557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*383_*388del MANE Plus Clinical	ENSP00000417074.1:n.*383_*388del
ENST00000696466.1:c.*383_*388del	ENSP00000512647.1:n.*383_*388del
ENST00000696672.1:c.801_806del	ENSP00000512796.1:n.801_806del
ENST00000341105.7:c.*383_*388del MANE Select	ENSP00000345681.2:n.*383_*388del
ENST00000341105.6:c.*383_*388del	ENSP00000345681.2:n.*383_*388del
ENST00000430265.6:c.*383_*388del	ENSP00000400259.2:n.*383_*388del
ENST00000489987.1:n.943_948del
NM_001145661.1:c.*383_*388del , LRG_295t1:c.*383_*388del	NP_001139133.1:n.*383_*388del
NM_001145662.1:c.*383_*388del	NP_001139134.1:n.*383_*388del
NM_032638.4:c.*383_*388del , LRG_295t2:c.*383_*388del	NP_116027.2:n.*383_*388del
NM_001145661.2:c.*383_*388del MANE Plus Clinical	NP_001139133.1:n.*383_*388del
NM_032638.5:c.*383_*388del MANE Select	NP_116027.2:n.*383_*388del