Canonical Allele Identifier: CA83375797

Gene: GATA2

Linked Data

• dbSNP Id: rs887006281
• gnomAD v3: 3-128479917-A-G
• gnomAD v4: 3-128479917-A-G
• MyVariant Identifiers: chr3:g.128198760A>G (hg19) ; chr3:g.128479917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128479917A>G , CM000665.2:g.128479917A>G	GRCh38
NC_000003.11:g.128198760A>G , CM000665.1:g.128198760A>G	GRCh37
NC_000003.10:g.129681450A>G	NCBI36
NG_029334.1:g.18271T>C , LRG_295:g.18271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*1102T>C MANE Plus Clinical	ENSP00000417074.1:n.*1102T>C
ENST00000696466.1:c.*1102T>C	ENSP00000512647.1:n.*1102T>C
ENST00000696672.1:c.1520T>C	ENSP00000512796.1:n.1520T>C
ENST00000341105.7:c.*1102T>C MANE Select	ENSP00000345681.2:n.*1102T>C
ENST00000341105.6:c.*1102T>C	ENSP00000345681.2:n.*1102T>C
NM_001145661.1:c.*1102T>C , LRG_295t1:c.*1102T>C	NP_001139133.1:n.*1102T>C
NM_001145662.1:c.*1102T>C	NP_001139134.1:n.*1102T>C
NM_032638.4:c.*1102T>C , LRG_295t2:c.*1102T>C	NP_116027.2:n.*1102T>C
NM_001145661.2:c.*1102T>C MANE Plus Clinical	NP_001139133.1:n.*1102T>C
NM_032638.5:c.*1102T>C MANE Select	NP_116027.2:n.*1102T>C