Canonical Allele Identifier: CA2599810

Gene: GATA2

Linked Data

• dbSNP Id: rs753159607
• ExAC: 3:128200032 A / C
• gnomAD v2: 3-128200032-A-C
• gnomAD v3: 3-128481189-A-C
• gnomAD v4: 3-128481189-A-C
• MyVariant Identifiers: chr3:g.128200032A>C (hg19) ; chr3:g.128481189A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481189A>C , CM000665.2:g.128481189A>C	GRCh38
NC_000003.11:g.128200032A>C , CM000665.1:g.128200032A>C	GRCh37
NC_000003.10:g.129682722A>C	NCBI36
NG_029334.1:g.16999T>G , LRG_295:g.16999T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1273T>G MANE Plus Clinical	ENSP00000417074.1:p.Ser425Ala
ENST00000696466.1:c.1555T>G	ENSP00000512647.1:p.Ser519Ala
ENST00000696672.1:c.248T>G	ENSP00000512796.1:p.Val83Gly
ENST00000341105.7:c.1273T>G MANE Select	ENSP00000345681.2:p.Ser425Ala
ENST00000341105.6:c.1273T>G	ENSP00000345681.2:p.Ser425Ala
ENST00000430265.6:c.1231T>G	ENSP00000400259.2:p.Ser411Ala
ENST00000487848.5:c.1273T>G	ENSP00000417074.1:p.Ser425Ala
ENST00000489987.1:n.390T>G
NM_001145661.1:c.1273T>G , LRG_295t1:c.1273T>G	NP_001139133.1:p.Ser425Ala
NM_001145662.1:c.1231T>G	NP_001139134.1:p.Ser411Ala
NM_032638.4:c.1273T>G , LRG_295t2:c.1273T>G	NP_116027.2:p.Ser425Ala
NM_001145661.2:c.1273T>G MANE Plus Clinical	NP_001139133.1:p.Ser425Ala
NM_032638.5:c.1273T>G MANE Select	NP_116027.2:p.Ser425Ala