Canonical Allele Identifier: CA354413245

Gene: GATA2

Linked Data

• dbSNP Id: rs1190938460
• gnomAD v3: 3-128481279-T-A
• gnomAD v4: 3-128481279-T-A
• MyVariant Identifiers: chr3:g.128200122T>A (hg19) ; chr3:g.128481279T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481279T>A , CM000665.2:g.128481279T>A	GRCh38
NC_000003.11:g.128200122T>A , CM000665.1:g.128200122T>A	GRCh37
NC_000003.10:g.129682812T>A	NCBI36
NG_029334.1:g.16909A>T , LRG_295:g.16909A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1183A>T MANE Plus Clinical	ENSP00000417074.1:p.Thr395Ser
ENST00000696466.1:c.1465A>T	ENSP00000512647.1:p.Thr489Ser
ENST00000696672.1:c.158A>T	ENSP00000512796.1:p.Asp53Val
ENST00000341105.7:c.1183A>T MANE Select	ENSP00000345681.2:p.Thr395Ser
ENST00000341105.6:c.1183A>T	ENSP00000345681.2:p.Thr395Ser
ENST00000430265.6:c.1141A>T	ENSP00000400259.2:p.Thr381Ser
ENST00000487848.5:c.1183A>T	ENSP00000417074.1:p.Thr395Ser
ENST00000489987.1:n.300A>T
NM_001145661.1:c.1183A>T , LRG_295t1:c.1183A>T	NP_001139133.1:p.Thr395Ser
NM_001145662.1:c.1141A>T	NP_001139134.1:p.Thr381Ser
NM_032638.4:c.1183A>T , LRG_295t2:c.1183A>T	NP_116027.2:p.Thr395Ser
NM_001145661.2:c.1183A>T MANE Plus Clinical	NP_001139133.1:p.Thr395Ser
NM_032638.5:c.1183A>T MANE Select	NP_116027.2:p.Thr395Ser