Canonical Allele Identifier: CA2667540160

Gene: GATA2

Linked Data

• gnomAD v4: 3-128480896-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480897dup , CM000665.2:g.128480897dup	GRCh38
NC_000003.11:g.128199740dup , CM000665.1:g.128199740dup	GRCh37
NC_000003.10:g.129682430dup	NCBI36
NG_029334.1:g.17291dup , LRG_295:g.17291dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*122dup MANE Plus Clinical	ENSP00000417074.1:n.*122dup
ENST00000696466.1:c.*122dup	ENSP00000512647.1:n.*122dup
ENST00000696672.1:c.540dup	ENSP00000512796.1:p.Pro181SerfsTer19
ENST00000341105.7:c.*122dup MANE Select	ENSP00000345681.2:n.*122dup
ENST00000341105.6:c.*122dup	ENSP00000345681.2:n.*122dup
ENST00000430265.6:c.*122dup	ENSP00000400259.2:n.*122dup
ENST00000489987.1:n.682dup
NM_001145661.1:c.*122dup , LRG_295t1:c.*122dup	NP_001139133.1:n.*122dup
NM_001145662.1:c.*122dup	NP_001139134.1:n.*122dup
NM_032638.4:c.*122dup , LRG_295t2:c.*122dup	NP_116027.2:n.*122dup
NM_001145661.2:c.*122dup MANE Plus Clinical	NP_001139133.1:n.*122dup
NM_032638.5:c.*122dup MANE Select	NP_116027.2:n.*122dup