Canonical Allele Identifier: CA2599806

Gene: GATA2

Linked Data

• dbSNP Id: rs766740489
• ExAC: 3:128200015 T / G
• gnomAD v2: 3-128200015-T-G
• gnomAD v4: 3-128481172-T-G
• COSMIC: COSM3587114
• MyVariant Identifiers: chr3:g.128200015T>G (hg19) ; chr3:g.128481172T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481172T>G , CM000665.2:g.128481172T>G	GRCh38
NC_000003.11:g.128200015T>G , CM000665.1:g.128200015T>G	GRCh37
NC_000003.10:g.129682705T>G	NCBI36
NG_029334.1:g.17016A>C , LRG_295:g.17016A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1290A>C MANE Plus Clinical	ENSP00000417074.1:p.Ala430=
ENST00000696466.1:c.1572A>C	ENSP00000512647.1:p.Ala524=
ENST00000696672.1:c.265A>C	ENSP00000512796.1:p.Ser89Arg
ENST00000341105.7:c.1290A>C MANE Select	ENSP00000345681.2:p.Ala430=
ENST00000341105.6:c.1290A>C	ENSP00000345681.2:p.Ala430=
ENST00000430265.6:c.1248A>C	ENSP00000400259.2:p.Ala416=
ENST00000487848.5:c.1290A>C	ENSP00000417074.1:p.Ala430=
ENST00000489987.1:n.407A>C
NM_001145661.1:c.1290A>C , LRG_295t1:c.1290A>C	NP_001139133.1:p.Ala430=
NM_001145662.1:c.1248A>C	NP_001139134.1:p.Ala416=
NM_032638.4:c.1290A>C , LRG_295t2:c.1290A>C	NP_116027.2:p.Ala430=
NM_001145661.2:c.1290A>C MANE Plus Clinical	NP_001139133.1:p.Ala430=
NM_032638.5:c.1290A>C MANE Select	NP_116027.2:p.Ala430=