Canonical Allele Identifier: CA354405865

Gene: GATA2

Linked Data

• ClinVar Variation Id: 800695
• ClinVar RCV Id: RCV000984849 ; RCV001542214
• dbSNP Id: rs764747992
• MyVariant Identifiers: chr3:g.128204639C>A (hg19) ; chr3:g.128485796C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128485796C>A , CM000665.2:g.128485796C>A	GRCh38
NC_000003.11:g.128204639C>A , CM000665.1:g.128204639C>A	GRCh37
NC_000003.10:g.129687329C>A	NCBI36
NG_029334.1:g.12392G>T , LRG_295:g.12392G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.802G>T MANE Plus Clinical	ENSP00000417074.1:p.Gly268Ter
ENST00000696466.1:c.1084G>T	ENSP00000512647.1:p.Gly362Ter
ENST00000341105.7:c.802G>T MANE Select	ENSP00000345681.2:p.Gly268Ter
ENST00000341105.6:c.802G>T	ENSP00000345681.2:p.Gly268Ter
ENST00000430265.6:c.802G>T	ENSP00000400259.2:p.Gly268Ter
ENST00000487848.5:c.802G>T	ENSP00000417074.1:p.Gly268Ter
NM_001145661.1:c.802G>T , LRG_295t1:c.802G>T	NP_001139133.1:p.Gly268Ter
NM_001145662.1:c.802G>T	NP_001139134.1:p.Gly268Ter
NM_032638.4:c.802G>T , LRG_295t2:c.802G>T	NP_116027.2:p.Gly268Ter
NM_001145661.2:c.802G>T MANE Plus Clinical	NP_001139133.1:p.Gly268Ter
NM_032638.5:c.802G>T MANE Select	NP_116027.2:p.Gly268Ter