Canonical Allele Identifier: CA354412784

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2947934
• ClinVar RCV Id: RCV003806756
• MyVariant Identifiers: chr3:g.128199989G>T (hg19) ; chr3:g.128481146G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481146G>T , CM000665.2:g.128481146G>T	GRCh38
NC_000003.11:g.128199989G>T , CM000665.1:g.128199989G>T	GRCh37
NC_000003.10:g.129682679G>T	NCBI36
NG_029334.1:g.17042C>A , LRG_295:g.17042C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1316C>A MANE Plus Clinical	ENSP00000417074.1:p.Pro439His
ENST00000696466.1:c.1598C>A	ENSP00000512647.1:p.Pro533His
ENST00000696672.1:c.291C>A	ENSP00000512796.1:p.Thr97=
ENST00000341105.7:c.1316C>A MANE Select	ENSP00000345681.2:p.Pro439His
ENST00000341105.6:c.1316C>A	ENSP00000345681.2:p.Pro439His
ENST00000430265.6:c.1274C>A	ENSP00000400259.2:p.Pro425His
ENST00000487848.5:c.1316C>A	ENSP00000417074.1:p.Pro439His
ENST00000489987.1:n.433C>A
NM_001145661.1:c.1316C>A , LRG_295t1:c.1316C>A	NP_001139133.1:p.Pro439His
NM_001145662.1:c.1274C>A	NP_001139134.1:p.Pro425His
NM_032638.4:c.1316C>A , LRG_295t2:c.1316C>A	NP_116027.2:p.Pro439His
NM_001145661.2:c.1316C>A MANE Plus Clinical	NP_001139133.1:p.Pro439His
NM_032638.5:c.1316C>A MANE Select	NP_116027.2:p.Pro439His