Canonical Allele Identifier: CA2599864
Gene: GATA2 HGNC NCBI

Linked Data

dbSNP Id: rs749819993
COSMIC: COSM255198

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