Canonical Allele Identifier: CA2667541076

Gene: GATA2

Linked Data

• gnomAD v4: 3-128486252-A-AGGGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486254_128486259dup , CM000665.2:g.128486254_128486259dup	GRCh38
NC_000003.11:g.128205097_128205102dup , CM000665.1:g.128205097_128205102dup	GRCh37
NC_000003.10:g.129687787_129687792dup	NCBI36
NG_029334.1:g.11930_11935dup , LRG_295:g.11930_11935dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.340_345dup MANE Plus Clinical	ENSP00000417074.1:p.Pro115_Trp116insAsnPr...
ENST00000696466.1:c.622_627dup	ENSP00000512647.1:p.Pro209_Trp210insAsnPr...
ENST00000341105.7:c.340_345dup MANE Select	ENSP00000345681.2:p.Pro115_Trp116insAsnPr...
ENST00000341105.6:c.340_345dup	ENSP00000345681.2:p.Pro115_Trp116insAsnPr...
ENST00000430265.6:c.340_345dup	ENSP00000400259.2:p.Pro115_Trp116insAsnPr...
ENST00000487848.5:c.340_345dup	ENSP00000417074.1:p.Pro115_Trp116insAsnPr...
ENST00000492608.1:c.340_345dup	ENSP00000418132.1:p.Pro115_Trp116insAsnPr...
NM_001145661.1:c.340_345dup , LRG_295t1:c.340_345dup	NP_001139133.1:p.Pro115_Trp116insAsnPro
NM_001145662.1:c.340_345dup	NP_001139134.1:p.Pro115_Trp116insAsnPro
NM_032638.4:c.340_345dup , LRG_295t2:c.340_345dup	NP_116027.2:p.Pro115_Trp116insAsnPro
NM_001145661.2:c.340_345dup MANE Plus Clinical	NP_001139133.1:p.Pro115_Trp116insAsnPro
NM_032638.5:c.340_345dup MANE Select	NP_116027.2:p.Pro115_Trp116insAsnPro