Canonical Allele Identifier: CA2599798

Gene: GATA2

Linked Data

• ClinVar Variation Id: 574296
• ClinVar RCV Id: RCV000696199 ; RCV003465596
• dbSNP Id: rs781161922
• ExAC: 3:128199974 G / A
• gnomAD v2: 3-128199974-G-A
• gnomAD v3: 3-128481131-G-A
• gnomAD v4: 3-128481131-G-A
• MyVariant Identifiers: chr3:g.128199974G>A (hg19) ; chr3:g.128481131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481131G>A , CM000665.2:g.128481131G>A	GRCh38
NC_000003.11:g.128199974G>A , CM000665.1:g.128199974G>A	GRCh37
NC_000003.10:g.129682664G>A	NCBI36
NG_029334.1:g.17057C>T , LRG_295:g.17057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1331C>T MANE Plus Clinical	ENSP00000417074.1:p.Pro444Leu
ENST00000696466.1:c.1613C>T	ENSP00000512647.1:p.Pro538Leu
ENST00000696672.1:c.306C>T	ENSP00000512796.1:p.Pro102=
ENST00000341105.7:c.1331C>T MANE Select	ENSP00000345681.2:p.Pro444Leu
ENST00000341105.6:c.1331C>T	ENSP00000345681.2:p.Pro444Leu
ENST00000430265.6:c.1289C>T	ENSP00000400259.2:p.Pro430Leu
ENST00000487848.5:c.1331C>T	ENSP00000417074.1:p.Pro444Leu
ENST00000489987.1:n.448C>T
NM_001145661.1:c.1331C>T , LRG_295t1:c.1331C>T	NP_001139133.1:p.Pro444Leu
NM_001145662.1:c.1289C>T	NP_001139134.1:p.Pro430Leu
NM_032638.4:c.1331C>T , LRG_295t2:c.1331C>T	NP_116027.2:p.Pro444Leu
NM_001145661.2:c.1331C>T MANE Plus Clinical	NP_001139133.1:p.Pro444Leu
NM_032638.5:c.1331C>T MANE Select	NP_116027.2:p.Pro444Leu