Canonical Allele Identifier: CA648278885

Gene: GATA2

Linked Data

• dbSNP Id: rs974134540
• gnomAD v4: 3-128483787-GT-G
• COSMIC: COSN18727428 ; COSN18727514 ; COSN20064914

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483794del , CM000665.2:g.128483794del	GRCh38
NC_000003.11:g.128202637del , CM000665.1:g.128202637del	GRCh37
NC_000003.10:g.129685327del	NCBI36
NG_029334.1:g.14400del , LRG_295:g.14400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1017+72del MANE Plus Clinical	ENSP00000417074.1:n.1017+72del
ENST00000696466.1:c.1299+72del	ENSP00000512647.1:n.1299+72del
ENST00000341105.7:c.1017+72del MANE Select	ENSP00000345681.2:n.1017+72del
ENST00000341105.6:c.1017+72del	ENSP00000345681.2:n.1017+72del
ENST00000430265.6:c.1017+72del	ENSP00000400259.2:n.1017+72del
ENST00000487848.5:c.1017+72del	ENSP00000417074.1:n.1017+72del
NM_001145661.1:c.1017+72del , LRG_295t1:c.1017+72del	NP_001139133.1:n.1017+72del
NM_001145662.1:c.1017+72del	NP_001139134.1:n.1017+72del
NM_032638.4:c.1017+72del , LRG_295t2:c.1017+72del	NP_116027.2:n.1017+72del
NM_001145661.2:c.1017+72del MANE Plus Clinical	NP_001139133.1:n.1017+72del
NM_032638.5:c.1017+72del MANE Select	NP_116027.2:n.1017+72del