Canonical Allele Identifier: CA354413089

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1059355
• ClinVar RCV Id: RCV001368616
• dbSNP Id: rs2107667997
• gnomAD v4: 3-128481239-T-C
• MyVariant Identifiers: chr3:g.128200082T>C (hg19) ; chr3:g.128481239T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481239T>C , CM000665.2:g.128481239T>C	GRCh38
NC_000003.11:g.128200082T>C , CM000665.1:g.128200082T>C	GRCh37
NC_000003.10:g.129682772T>C	NCBI36
NG_029334.1:g.16949A>G , LRG_295:g.16949A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1223A>G MANE Plus Clinical	ENSP00000417074.1:p.Lys408Arg
ENST00000696466.1:c.1505A>G	ENSP00000512647.1:p.Lys502Arg
ENST00000696672.1:c.198A>G	ENSP00000512796.1:p.Gln66=
ENST00000341105.7:c.1223A>G MANE Select	ENSP00000345681.2:p.Lys408Arg
ENST00000341105.6:c.1223A>G	ENSP00000345681.2:p.Lys408Arg
ENST00000430265.6:c.1181A>G	ENSP00000400259.2:p.Lys394Arg
ENST00000487848.5:c.1223A>G	ENSP00000417074.1:p.Lys408Arg
ENST00000489987.1:n.340A>G
NM_001145661.1:c.1223A>G , LRG_295t1:c.1223A>G	NP_001139133.1:p.Lys408Arg
NM_001145662.1:c.1181A>G	NP_001139134.1:p.Lys394Arg
NM_032638.4:c.1223A>G , LRG_295t2:c.1223A>G	NP_116027.2:p.Lys408Arg
NM_001145661.2:c.1223A>G MANE Plus Clinical	NP_001139133.1:p.Lys408Arg
NM_032638.5:c.1223A>G MANE Select	NP_116027.2:p.Lys408Arg