Canonical Allele Identifier: CA2599863

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1645838
• ClinVar RCV Id: RCV002148727
• dbSNP Id: rs780382117
• ExAC: 3:128200668 C / T
• gnomAD v2: 3-128200668-C-T
• gnomAD v4: 3-128481825-C-T
• MyVariant Identifiers: chr3:g.128200668C>T (hg19) ; chr3:g.128481825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481825C>T , CM000665.2:g.128481825C>T	GRCh38
NC_000003.11:g.128200668C>T , CM000665.1:g.128200668C>T	GRCh37
NC_000003.10:g.129683358C>T	NCBI36
NG_029334.1:g.16363G>A , LRG_295:g.16363G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1137G>A MANE Plus Clinical	ENSP00000417074.1:p.Leu379=
ENST00000696466.1:c.1419G>A	ENSP00000512647.1:p.Leu473=
ENST00000696672.1:c.120G>A	ENSP00000512796.1:p.Leu40=
ENST00000341105.7:c.1137G>A MANE Select	ENSP00000345681.2:p.Leu379=
ENST00000341105.6:c.1137G>A	ENSP00000345681.2:p.Leu379=
ENST00000430265.6:c.1095G>A	ENSP00000400259.2:p.Leu365=
ENST00000487848.5:c.1137G>A	ENSP00000417074.1:p.Leu379=
ENST00000489987.1:n.254G>A
NM_001145661.1:c.1137G>A , LRG_295t1:c.1137G>A	NP_001139133.1:p.Leu379=
NM_001145662.1:c.1095G>A	NP_001139134.1:p.Leu365=
NM_032638.4:c.1137G>A , LRG_295t2:c.1137G>A	NP_116027.2:p.Leu379=
NM_001145661.2:c.1137G>A MANE Plus Clinical	NP_001139133.1:p.Leu379=
NM_032638.5:c.1137G>A MANE Select	NP_116027.2:p.Leu379=