Canonical Allele Identifier: CA2573136522

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1593306
• ClinVar RCV Id: RCV002112778
• dbSNP Id: rs1576748317

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128485715A>T , CM000665.2:g.128485715A>T	GRCh38
NC_000003.11:g.128204558A>T , CM000665.1:g.128204558A>T	GRCh37
NC_000003.10:g.129687248A>T	NCBI36
NG_029334.1:g.12473T>A , LRG_295:g.12473T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.871+12T>A MANE Plus Clinical	ENSP00000417074.1:n.871+12T>A
ENST00000696466.1:c.1153+12T>A	ENSP00000512647.1:n.1153+12T>A
ENST00000341105.7:c.871+12T>A MANE Select	ENSP00000345681.2:n.871+12T>A
ENST00000341105.6:c.871+12T>A	ENSP00000345681.2:n.871+12T>A
ENST00000430265.6:c.871+12T>A	ENSP00000400259.2:n.871+12T>A
ENST00000487848.5:c.871+12T>A	ENSP00000417074.1:n.871+12T>A
NM_001145661.1:c.871+12T>A , LRG_295t1:c.871+12T>A	NP_001139133.1:n.871+12T>A
NM_001145662.1:c.871+12T>A	NP_001139134.1:n.871+12T>A
NM_032638.4:c.871+12T>A , LRG_295t2:c.871+12T>A	NP_116027.2:n.871+12T>A
NM_001145661.2:c.871+12T>A MANE Plus Clinical	NP_001139133.1:n.871+12T>A
NM_032638.5:c.871+12T>A MANE Select	NP_116027.2:n.871+12T>A