Canonical Allele Identifier: CA2667539461

Gene: GATA2

Linked Data

• gnomAD v4: 3-128480326-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480326_128480327insA , CM000665.2:g.128480326_128480327insA	GRCh38
NC_000003.11:g.128199169_128199170insA , CM000665.1:g.128199169_128199170insA	GRCh37
NC_000003.10:g.129681859_129681860insA	NCBI36
NG_029334.1:g.17861_17862insT , LRG_295:g.17861_17862insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.*692_*693insT MANE Plus Clinical	ENSP00000417074.1:n.*692_*693insT
ENST00000696466.1:c.*692_*693insT	ENSP00000512647.1:n.*692_*693insT
ENST00000696672.1:c.1110_1111insT	ENSP00000512796.1:n.1110_1111insT
ENST00000341105.7:c.*692_*693insT MANE Select	ENSP00000345681.2:n.*692_*693insT
ENST00000341105.6:c.*692_*693insT	ENSP00000345681.2:n.*692_*693insT
ENST00000430265.6:c.*692_*693insT	ENSP00000400259.2:n.*692_*693insT
ENST00000489987.1:n.1252_1253insT
NM_001145661.1:c.*692_*693insT , LRG_295t1:c.*692_*693insT	NP_001139133.1:n.*692_*693insT
NM_001145662.1:c.*692_*693insT	NP_001139134.1:n.*692_*693insT
NM_032638.4:c.*692_*693insT , LRG_295t2:c.*692_*693insT	NP_116027.2:n.*692_*693insT
NM_001145661.2:c.*692_*693insT MANE Plus Clinical	NP_001139133.1:n.*692_*693insT
NM_032638.5:c.*692_*693insT MANE Select	NP_116027.2:n.*692_*693insT