Canonical Allele Identifier: CA2599763

Gene: GATA2

Linked Data

• dbSNP Id: rs371094127
• ExAC: 3:128199828 C / T
• gnomAD v2: 3-128199828-C-T
• gnomAD v3: 3-128480985-C-T
• gnomAD v4: 3-128480985-C-T
• MyVariant Identifiers: chr3:g.128199828C>T (hg19) ; chr3:g.128480985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480985C>T , CM000665.2:g.128480985C>T	GRCh38
NC_000003.11:g.128199828C>T , CM000665.1:g.128199828C>T	GRCh37
NC_000003.10:g.129682518C>T	NCBI36
NG_029334.1:g.17203G>A , LRG_295:g.17203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*34G>A MANE Plus Clinical	ENSP00000417074.1:n.*34G>A
ENST00000696466.1:c.*34G>A	ENSP00000512647.1:n.*34G>A
ENST00000696672.1:c.452G>A	ENSP00000512796.1:p.Arg151Gln
ENST00000341105.7:c.*34G>A MANE Select	ENSP00000345681.2:n.*34G>A
ENST00000341105.6:c.*34G>A	ENSP00000345681.2:n.*34G>A
ENST00000430265.6:c.*34G>A	ENSP00000400259.2:n.*34G>A
ENST00000489987.1:n.594G>A
NM_001145661.1:c.*34G>A , LRG_295t1:c.*34G>A	NP_001139133.1:n.*34G>A
NM_001145662.1:c.*34G>A	NP_001139134.1:n.*34G>A
NM_032638.4:c.*34G>A , LRG_295t2:c.*34G>A	NP_116027.2:n.*34G>A
NM_001145661.2:c.*34G>A MANE Plus Clinical	NP_001139133.1:n.*34G>A
NM_032638.5:c.*34G>A MANE Select	NP_116027.2:n.*34G>A