Canonical Allele Identifier: CA2667539102

Gene: GATA2

Linked Data

• gnomAD v4: 3-128479801-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128479801C>A , CM000665.2:g.128479801C>A	GRCh38
NC_000003.11:g.128198644C>A , CM000665.1:g.128198644C>A	GRCh37
NC_000003.10:g.129681334C>A	NCBI36
NG_029334.1:g.18387G>T , LRG_295:g.18387G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.*1218G>T MANE Plus Clinical	ENSP00000417074.1:n.*1218G>T
ENST00000696466.1:c.*1218G>T	ENSP00000512647.1:n.*1218G>T
ENST00000696672.1:c.1636G>T	ENSP00000512796.1:n.1636G>T
ENST00000341105.7:c.*1218G>T MANE Select	ENSP00000345681.2:n.*1218G>T
ENST00000341105.6:c.*1218G>T	ENSP00000345681.2:n.*1218G>T
NM_001145661.1:c.*1218G>T , LRG_295t1:c.*1218G>T	NP_001139133.1:n.*1218G>T
NM_001145662.1:c.*1218G>T	NP_001139134.1:n.*1218G>T
NM_032638.4:c.*1218G>T , LRG_295t2:c.*1218G>T	NP_116027.2:n.*1218G>T
NM_001145661.2:c.*1218G>T MANE Plus Clinical	NP_001139133.1:n.*1218G>T
NM_032638.5:c.*1218G>T MANE Select	NP_116027.2:n.*1218G>T