Canonical Allele Identifier: CA435525518

Gene: GATA2

Linked Data

• ClinVar Variation Id: 759777
• ClinVar RCV Id: RCV000937653
• dbSNP Id: rs1397473749
• gnomAD v2: 3-128200671-C-T
• gnomAD v4: 3-128481828-C-T
• MyVariant Identifiers: chr3:g.128200671C>T (hg19) ; chr3:g.128481828C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481828C>T , CM000665.2:g.128481828C>T	GRCh38
NC_000003.11:g.128200671C>T , CM000665.1:g.128200671C>T	GRCh37
NC_000003.10:g.129683361C>T	NCBI36
NG_029334.1:g.16360G>A , LRG_295:g.16360G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1134G>A MANE Plus Clinical	ENSP00000417074.1:p.Lys378=
ENST00000696466.1:c.1416G>A	ENSP00000512647.1:p.Lys472=
ENST00000696672.1:c.117G>A	ENSP00000512796.1:p.Lys39=
ENST00000341105.7:c.1134G>A MANE Select	ENSP00000345681.2:p.Lys378=
ENST00000341105.6:c.1134G>A	ENSP00000345681.2:p.Lys378=
ENST00000430265.6:c.1092G>A	ENSP00000400259.2:p.Lys364=
ENST00000487848.5:c.1134G>A	ENSP00000417074.1:p.Lys378=
ENST00000489987.1:n.251G>A
NM_001145661.1:c.1134G>A , LRG_295t1:c.1134G>A	NP_001139133.1:p.Lys378=
NM_001145662.1:c.1092G>A	NP_001139134.1:p.Lys364=
NM_032638.4:c.1134G>A , LRG_295t2:c.1134G>A	NP_116027.2:p.Lys378=
NM_001145661.2:c.1134G>A MANE Plus Clinical	NP_001139133.1:p.Lys378=
NM_032638.5:c.1134G>A MANE Select	NP_116027.2:p.Lys378=