Canonical Allele Identifier: CA354412557

Gene: GATA2

Linked Data

• ClinVar Variation Id: 580830
• ClinVar RCV Id: RCV000704488 ; RCV003442052
• dbSNP Id: rs1559984575
• MyVariant Identifiers: chr3:g.128199920G>T (hg19) ; chr3:g.128481077G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481077G>T , CM000665.2:g.128481077G>T	GRCh38
NC_000003.11:g.128199920G>T , CM000665.1:g.128199920G>T	GRCh37
NC_000003.10:g.129682610G>T	NCBI36
NG_029334.1:g.17111C>A , LRG_295:g.17111C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1385C>A MANE Plus Clinical	ENSP00000417074.1:p.Ser462Tyr
ENST00000696466.1:c.1667C>A	ENSP00000512647.1:p.Ser556Tyr
ENST00000696672.1:c.360C>A	ENSP00000512796.1:p.Leu120=
ENST00000341105.7:c.1385C>A MANE Select	ENSP00000345681.2:p.Ser462Tyr
ENST00000341105.6:c.1385C>A	ENSP00000345681.2:p.Ser462Tyr
ENST00000430265.6:c.1343C>A	ENSP00000400259.2:p.Ser448Tyr
ENST00000487848.5:c.1385C>A	ENSP00000417074.1:p.Ser462Tyr
ENST00000489987.1:n.502C>A
NM_001145661.1:c.1385C>A , LRG_295t1:c.1385C>A	NP_001139133.1:p.Ser462Tyr
NM_001145662.1:c.1343C>A	NP_001139134.1:p.Ser448Tyr
NM_032638.4:c.1385C>A , LRG_295t2:c.1385C>A	NP_116027.2:p.Ser462Tyr
NM_001145661.2:c.1385C>A MANE Plus Clinical	NP_001139133.1:p.Ser462Tyr
NM_032638.5:c.1385C>A MANE Select	NP_116027.2:p.Ser462Tyr