Canonical Allele Identifier: CA2599808

Gene: GATA2

Linked Data

• ClinVar Variation Id: 404078
• ClinVar RCV Id: RCV000502835 ; RCV000463544 ; RCV000765709 ; RCV001150746 ; RCV001541960 ; RCV003470392
• dbSNP Id: rs201155045
• ExAC: 3:128200019 C / G
• gnomAD v2: 3-128200019-C-G
• gnomAD v3: 3-128481176-C-G
• gnomAD v4: 3-128481176-C-G
• MyVariant Identifiers: chr3:g.128200019C>G (hg19) ; chr3:g.128481176C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481176C>G , CM000665.2:g.128481176C>G	GRCh38
NC_000003.11:g.128200019C>G , CM000665.1:g.128200019C>G	GRCh37
NC_000003.10:g.129682709C>G	NCBI36
NG_029334.1:g.17012G>C , LRG_295:g.17012G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1286G>C MANE Plus Clinical	ENSP00000417074.1:p.Ser429Thr
ENST00000696466.1:c.1568G>C	ENSP00000512647.1:p.Ser523Thr
ENST00000696672.1:c.261G>C	ENSP00000512796.1:p.Gln87His
ENST00000341105.7:c.1286G>C MANE Select	ENSP00000345681.2:p.Ser429Thr
ENST00000341105.6:c.1286G>C	ENSP00000345681.2:p.Ser429Thr
ENST00000430265.6:c.1244G>C	ENSP00000400259.2:p.Ser415Thr
ENST00000487848.5:c.1286G>C	ENSP00000417074.1:p.Ser429Thr
ENST00000489987.1:n.403G>C
NM_001145661.1:c.1286G>C , LRG_295t1:c.1286G>C	NP_001139133.1:p.Ser429Thr
NM_001145662.1:c.1244G>C	NP_001139134.1:p.Ser415Thr
NM_032638.4:c.1286G>C , LRG_295t2:c.1286G>C	NP_116027.2:p.Ser429Thr
NM_001145661.2:c.1286G>C MANE Plus Clinical	NP_001139133.1:p.Ser429Thr
NM_032638.5:c.1286G>C MANE Select	NP_116027.2:p.Ser429Thr