Canonical Allele Identifier: CA1400719440
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486179A= , CM000665.2:g.128486179A= GRCh38
NC_000003.11:g.128205022A= , CM000665.1:g.128205022A= GRCh37
NC_000003.10:g.129687712A= NCBI36
NG_029334.1:g.12009T= , LRG_295:g.12009T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.419T= MANE Plus Clinical ENSP00000417074.1:p.Val140=
ENST00000696466.1:c.701T= ENSP00000512647.1:p.Val234=
ENST00000341105.7:c.419T= MANE Select ENSP00000345681.2:p.Val140=
ENST00000341105.6:c.419T= ENSP00000345681.2:p.Val140=
ENST00000430265.6:c.419T= ENSP00000400259.2:p.Val140=
ENST00000487848.5:c.419T= ENSP00000417074.1:p.Val140=
ENST00000492608.1:c.419T= ENSP00000418132.1:p.Val140=
NM_001145661.1:c.419T= , LRG_295t1:c.419T= NP_001139133.1:p.Val140=
NM_001145662.1:c.419T= NP_001139134.1:p.Val140=
NM_032638.4:c.419T= , LRG_295t2:c.419T= NP_116027.2:p.Val140=
NM_001145661.2:c.419T= MANE Plus Clinical NP_001139133.1:p.Val140=
NM_032638.5:c.419T= MANE Select NP_116027.2:p.Val140=