Canonical Allele Identifier: CA435525045

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1088489
• ClinVar RCV Id: RCV001407015
• dbSNP Id: rs2107668021
• MyVariant Identifiers: chr3:g.128200093G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481250G>A , CM000665.2:g.128481250G>A	GRCh38
NC_000003.11:g.128200093G>A , CM000665.1:g.128200093G>A	GRCh37
NC_000003.10:g.129682783G>A	NCBI36
NG_029334.1:g.16938C>T , LRG_295:g.16938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1212C>T MANE Plus Clinical	ENSP00000417074.1:p.Ser404=
ENST00000696466.1:c.1494C>T	ENSP00000512647.1:p.Ser498=
ENST00000696672.1:c.187C>T	ENSP00000512796.1:p.Gln63Ter
ENST00000341105.7:c.1212C>T MANE Select	ENSP00000345681.2:p.Ser404=
ENST00000341105.6:c.1212C>T	ENSP00000345681.2:p.Ser404=
ENST00000430265.6:c.1170C>T	ENSP00000400259.2:p.Ser390=
ENST00000487848.5:c.1212C>T	ENSP00000417074.1:p.Ser404=
ENST00000489987.1:n.329C>T
NM_001145661.1:c.1212C>T , LRG_295t1:c.1212C>T	NP_001139133.1:p.Ser404=
NM_001145662.1:c.1170C>T	NP_001139134.1:p.Ser390=
NM_032638.4:c.1212C>T , LRG_295t2:c.1212C>T	NP_116027.2:p.Ser404=
NM_001145661.2:c.1212C>T MANE Plus Clinical	NP_001139133.1:p.Ser404=
NM_032638.5:c.1212C>T MANE Select	NP_116027.2:p.Ser404=