Canonical Allele Identifier: CA2599864

Gene: GATA2

Linked Data

• dbSNP Id: rs749819993
• ExAC: 3:128200669 A / T
• gnomAD v2: 3-128200669-A-T
• COSMIC: COSM255198
• MyVariant Identifiers: chr3:g.128200669A>T (hg19) ; chr3:g.128481826A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481826A>T , CM000665.2:g.128481826A>T	GRCh38
NC_000003.11:g.128200669A>T , CM000665.1:g.128200669A>T	GRCh37
NC_000003.10:g.129683359A>T	NCBI36
NG_029334.1:g.16362T>A , LRG_295:g.16362T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1136T>A MANE Plus Clinical	ENSP00000417074.1:p.Leu379Gln
ENST00000696466.1:c.1418T>A	ENSP00000512647.1:p.Leu473Gln
ENST00000696672.1:c.119T>A	ENSP00000512796.1:p.Leu40Gln
ENST00000341105.7:c.1136T>A MANE Select	ENSP00000345681.2:p.Leu379Gln
ENST00000341105.6:c.1136T>A	ENSP00000345681.2:p.Leu379Gln
ENST00000430265.6:c.1094T>A	ENSP00000400259.2:p.Leu365Gln
ENST00000487848.5:c.1136T>A	ENSP00000417074.1:p.Leu379Gln
ENST00000489987.1:n.253T>A
NM_001145661.1:c.1136T>A , LRG_295t1:c.1136T>A	NP_001139133.1:p.Leu379Gln
NM_001145662.1:c.1094T>A	NP_001139134.1:p.Leu365Gln
NM_032638.4:c.1136T>A , LRG_295t2:c.1136T>A	NP_116027.2:p.Leu379Gln
NM_001145661.2:c.1136T>A MANE Plus Clinical	NP_001139133.1:p.Leu379Gln
NM_032638.5:c.1136T>A MANE Select	NP_116027.2:p.Leu379Gln