Canonical Allele Identifier: CA435524474

Gene: GATA2

Linked Data

• ClinVar Variation Id: 472444
• ClinVar RCV Id: RCV000525573
• dbSNP Id: rs769577309
• gnomAD v4: 3-128481133-G-C
• MyVariant Identifiers: chr3:g.128199976G>C (hg19) ; chr3:g.128481133G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481133G>C , CM000665.2:g.128481133G>C	GRCh38
NC_000003.11:g.128199976G>C , CM000665.1:g.128199976G>C	GRCh37
NC_000003.10:g.129682666G>C	NCBI36
NG_029334.1:g.17055C>G , LRG_295:g.17055C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1329C>G MANE Plus Clinical	ENSP00000417074.1:p.Leu443=
ENST00000696466.1:c.1611C>G	ENSP00000512647.1:p.Leu537=
ENST00000696672.1:c.304C>G	ENSP00000512796.1:p.Pro102Ala
ENST00000341105.7:c.1329C>G MANE Select	ENSP00000345681.2:p.Leu443=
ENST00000341105.6:c.1329C>G	ENSP00000345681.2:p.Leu443=
ENST00000430265.6:c.1287C>G	ENSP00000400259.2:p.Leu429=
ENST00000487848.5:c.1329C>G	ENSP00000417074.1:p.Leu443=
ENST00000489987.1:n.446C>G
NM_001145661.1:c.1329C>G , LRG_295t1:c.1329C>G	NP_001139133.1:p.Leu443=
NM_001145662.1:c.1287C>G	NP_001139134.1:p.Leu429=
NM_032638.4:c.1329C>G , LRG_295t2:c.1329C>G	NP_116027.2:p.Leu443=
NM_001145661.2:c.1329C>G MANE Plus Clinical	NP_001139133.1:p.Leu443=
NM_032638.5:c.1329C>G MANE Select	NP_116027.2:p.Leu443=