Canonical Allele Identifier: CA354413502

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184165
• ClinVar RCV Id: RCV001542129
• dbSNP Id: rs2107668617
• MyVariant Identifiers: chr3:g.128200687C>T (hg19) ; chr3:g.128481844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481844C>T , CM000665.2:g.128481844C>T	GRCh38
NC_000003.11:g.128200687C>T , CM000665.1:g.128200687C>T	GRCh37
NC_000003.10:g.129683377C>T	NCBI36
NG_029334.1:g.16344G>A , LRG_295:g.16344G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1118G>A MANE Plus Clinical	ENSP00000417074.1:p.Cys373Tyr
ENST00000696466.1:c.1400G>A	ENSP00000512647.1:p.Cys467Tyr
ENST00000696672.1:c.101G>A	ENSP00000512796.1:p.Cys34Tyr
ENST00000341105.7:c.1118G>A MANE Select	ENSP00000345681.2:p.Cys373Tyr
ENST00000341105.6:c.1118G>A	ENSP00000345681.2:p.Cys373Tyr
ENST00000430265.6:c.1076G>A	ENSP00000400259.2:p.Cys359Tyr
ENST00000487848.5:c.1118G>A	ENSP00000417074.1:p.Cys373Tyr
ENST00000489987.1:n.235G>A
NM_001145661.1:c.1118G>A , LRG_295t1:c.1118G>A	NP_001139133.1:p.Cys373Tyr
NM_001145662.1:c.1076G>A	NP_001139134.1:p.Cys359Tyr
NM_032638.4:c.1118G>A , LRG_295t2:c.1118G>A	NP_116027.2:p.Cys373Tyr
NM_001145661.2:c.1118G>A MANE Plus Clinical	NP_001139133.1:p.Cys373Tyr
NM_032638.5:c.1118G>A MANE Select	NP_116027.2:p.Cys373Tyr