Canonical Allele Identifier: CA83376663

Gene: GATA2

Linked Data

• dbSNP Id: rs1037911176
• gnomAD v3: 3-128482125-TCA-T
• gnomAD v4: 3-128482125-TCA-T
• MyVariant Identifiers: chr3:g.128200969_128200970del (hg19) ; chr3:g.128482126_128482127del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128482128_128482129del , CM000665.2:g.128482128_128482129del	GRCh38
NC_000003.11:g.128200971_128200972del , CM000665.1:g.128200971_128200972del	GRCh37
NC_000003.10:g.129683661_129683662del	NCBI36
NG_029334.1:g.16061_16062del , LRG_295:g.16061_16062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1018-183_1018-182del MANE Plus Clinical	ENSP00000417074.1:n.1018-183_1018-182del
ENST00000696466.1:c.1300-183_1300-182del	ENSP00000512647.1:n.1300-183_1300-182del
ENST00000341105.7:c.1018-183_1018-182del MANE Select	ENSP00000345681.2:n.1018-183_1018-182del
ENST00000341105.6:c.1018-183_1018-182del	ENSP00000345681.2:n.1018-183_1018-182del
ENST00000430265.6:c.1018-225_1018-224del	ENSP00000400259.2:n.1018-225_1018-224del
ENST00000487848.5:c.1018-183_1018-182del	ENSP00000417074.1:n.1018-183_1018-182del
NM_001145661.1:c.1018-183_1018-182del , LRG_295t1:c.1018-183_1018-182del	NP_001139133.1:n.1018-183_1018-182del
NM_001145662.1:c.1018-225_1018-224del	NP_001139134.1:n.1018-225_1018-224del
NM_032638.4:c.1018-183_1018-182del , LRG_295t2:c.1018-183_1018-182del	NP_116027.2:n.1018-183_1018-182del
NM_001145661.2:c.1018-183_1018-182del MANE Plus Clinical	NP_001139133.1:n.1018-183_1018-182del
NM_032638.5:c.1018-183_1018-182del MANE Select	NP_116027.2:n.1018-183_1018-182del