Canonical Allele Identifier: CA354413056

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2936134
• ClinVar RCV Id: RCV003796420
• dbSNP Id: rs2068624116
• gnomAD v4: 3-128481231-C-G
• MyVariant Identifiers: chr3:g.128200074C>G (hg19) ; chr3:g.128481231C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481231C>G , CM000665.2:g.128481231C>G	GRCh38
NC_000003.11:g.128200074C>G , CM000665.1:g.128200074C>G	GRCh37
NC_000003.10:g.129682764C>G	NCBI36
NG_029334.1:g.16957G>C , LRG_295:g.16957G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1231G>C MANE Plus Clinical	ENSP00000417074.1:p.Ala411Pro
ENST00000696466.1:c.1513G>C	ENSP00000512647.1:p.Ala505Pro
ENST00000696672.1:c.206G>C	ENSP00000512796.1:p.Gly69Ala
ENST00000341105.7:c.1231G>C MANE Select	ENSP00000345681.2:p.Ala411Pro
ENST00000341105.6:c.1231G>C	ENSP00000345681.2:p.Ala411Pro
ENST00000430265.6:c.1189G>C	ENSP00000400259.2:p.Ala397Pro
ENST00000487848.5:c.1231G>C	ENSP00000417074.1:p.Ala411Pro
ENST00000489987.1:n.348G>C
NM_001145661.1:c.1231G>C , LRG_295t1:c.1231G>C	NP_001139133.1:p.Ala411Pro
NM_001145662.1:c.1189G>C	NP_001139134.1:p.Ala397Pro
NM_032638.4:c.1231G>C , LRG_295t2:c.1231G>C	NP_116027.2:p.Ala411Pro
NM_001145661.2:c.1231G>C MANE Plus Clinical	NP_001139133.1:p.Ala411Pro
NM_032638.5:c.1231G>C MANE Select	NP_116027.2:p.Ala411Pro