Canonical Allele Identifier: CA2599776

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1152595
• ClinVar RCV Id: RCV001493965
• dbSNP Id: rs772050518
• ExAC: 3:128199898 G / A
• gnomAD v2: 3-128199898-G-A
• gnomAD v3: 3-128481055-G-A
• gnomAD v4: 3-128481055-G-A
• MyVariant Identifiers: chr3:g.128199898G>A (hg19) ; chr3:g.128481055G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481055G>A , CM000665.2:g.128481055G>A	GRCh38
NC_000003.11:g.128199898G>A , CM000665.1:g.128199898G>A	GRCh37
NC_000003.10:g.129682588G>A	NCBI36
NG_029334.1:g.17133C>T , LRG_295:g.17133C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1407C>T MANE Plus Clinical	ENSP00000417074.1:p.His469=
ENST00000696466.1:c.1689C>T	ENSP00000512647.1:p.His563=
ENST00000696672.1:c.382C>T	ENSP00000512796.1:p.Pro128Ser
ENST00000341105.7:c.1407C>T MANE Select	ENSP00000345681.2:p.His469=
ENST00000341105.6:c.1407C>T	ENSP00000345681.2:p.His469=
ENST00000430265.6:c.1365C>T	ENSP00000400259.2:p.His455=
ENST00000487848.5:c.1407C>T	ENSP00000417074.1:p.His469=
ENST00000489987.1:n.524C>T
NM_001145661.1:c.1407C>T , LRG_295t1:c.1407C>T	NP_001139133.1:p.His469=
NM_001145662.1:c.1365C>T	NP_001139134.1:p.His455=
NM_032638.4:c.1407C>T , LRG_295t2:c.1407C>T	NP_116027.2:p.His469=
NM_001145661.2:c.1407C>T MANE Plus Clinical	NP_001139133.1:p.His469=
NM_032638.5:c.1407C>T MANE Select	NP_116027.2:p.His469=