Canonical Allele Identifier: CA354413588
Community Standard Title: NM_032638.5(GATA2):c.1078T>A (p.Trp360Arg)
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481884A>T , CM000665.2:g.128481884A>T GRCh38
NC_000003.11:g.128200727A>T , CM000665.1:g.128200727A>T GRCh37
NC_000003.10:g.129683417A>T NCBI36
NG_029334.1:g.16304T>A , LRG_295:g.16304T>A

Transcript Alleles

HGVS Amino-acid Change
NM_032638.5:c.1078T>A MANE Select NP_116027.2:p.Trp360Arg
ENST00000341105.7:c.1078T>A MANE Select ENSP00000345681.2:p.Trp360Arg
NM_001145661.2:c.1078T>A MANE Plus Clinical NP_001139133.1:p.Trp360Arg
ENST00000487848.6:c.1078T>A MANE Plus Clinical ENSP00000417074.1:p.Trp360Arg
NM_001145661.1:c.1078T>A , LRG_295t1:c.1078T>A NP_001139133.1:p.Trp360Arg
NM_001145662.1:c.1036T>A NP_001139134.1:p.Trp346Arg
NM_032638.4:c.1078T>A , LRG_295t2:c.1078T>A NP_116027.2:p.Trp360Arg
ENST00000341105.6:c.1078T>A ENSP00000345681.2:p.Trp360Arg
ENST00000430265.6:c.1036T>A ENSP00000400259.2:p.Trp346Arg
ENST00000487848.5:c.1078T>A ENSP00000417074.1:p.Trp360Arg
ENST00000489987.1:n.195T>A
ENST00000696466.1:c.1360T>A ENSP00000512647.1:p.Trp454Arg
ENST00000696672.1:c.61T>A ENSP00000512796.1:p.Trp21Arg