Canonical Allele Identifier: CA546105869

Gene: GATA2

Linked Data

• dbSNP Id: rs1244761072
• gnomAD v2: 3-128202543-CAGAA-C
• gnomAD v3: 3-128483700-CAGAA-C
• gnomAD v4: 3-128483700-CAGAA-C
• MyVariant Identifiers: chr3:g.128202544_128202547del (hg19) ; chr3:g.128483701_128483704del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483704_128483707del , CM000665.2:g.128483704_128483707del	GRCh38
NC_000003.11:g.128202547_128202550del , CM000665.1:g.128202547_128202550del	GRCh37
NC_000003.10:g.129685237_129685240del	NCBI36
NG_029334.1:g.14484_14487del , LRG_295:g.14484_14487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1017+156_1017+159del MANE Plus Clinical	ENSP00000417074.1:n.1017+156_1017+159del
ENST00000696466.1:c.1299+156_1299+159del	ENSP00000512647.1:n.1299+156_1299+159del
ENST00000341105.7:c.1017+156_1017+159del MANE Select	ENSP00000345681.2:n.1017+156_1017+159del
ENST00000341105.6:c.1017+156_1017+159del	ENSP00000345681.2:n.1017+156_1017+159del
ENST00000430265.6:c.1017+156_1017+159del	ENSP00000400259.2:n.1017+156_1017+159del
ENST00000487848.5:c.1017+156_1017+159del	ENSP00000417074.1:n.1017+156_1017+159del
NM_001145661.1:c.1017+156_1017+159del , LRG_295t1:c.1017+156_1017+159del	NP_001139133.1:n.1017+156_1017+159del
NM_001145662.1:c.1017+156_1017+159del	NP_001139134.1:n.1017+156_1017+159del
NM_032638.4:c.1017+156_1017+159del , LRG_295t2:c.1017+156_1017+159del	NP_116027.2:n.1017+156_1017+159del
NM_001145661.2:c.1017+156_1017+159del MANE Plus Clinical	NP_001139133.1:n.1017+156_1017+159del
NM_032638.5:c.1017+156_1017+159del MANE Select	NP_116027.2:n.1017+156_1017+159del