Canonical Allele Identifier: CA1053361515

Gene: GATA2

Linked Data

• dbSNP Id: rs2068637585
• gnomAD v3: 3-128482026-TCC-T
• gnomAD v4: 3-128482026-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128482029_128482030del , CM000665.2:g.128482029_128482030del	GRCh38
NC_000003.11:g.128200872_128200873del , CM000665.1:g.128200872_128200873del	GRCh37
NC_000003.10:g.129683562_129683563del	NCBI36
NG_029334.1:g.16160_16161del , LRG_295:g.16160_16161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1018-84_1018-83del MANE Plus Clinical	ENSP00000417074.1:n.1018-84_1018-83del
ENST00000696466.1:c.1300-84_1300-83del	ENSP00000512647.1:n.1300-84_1300-83del
ENST00000341105.7:c.1018-84_1018-83del MANE Select	ENSP00000345681.2:n.1018-84_1018-83del
ENST00000341105.6:c.1018-84_1018-83del	ENSP00000345681.2:n.1018-84_1018-83del
ENST00000430265.6:c.1018-126_1018-125del	ENSP00000400259.2:n.1018-126_1018-125del
ENST00000487848.5:c.1018-84_1018-83del	ENSP00000417074.1:n.1018-84_1018-83del
ENST00000489987.1:n.51_52del
NM_001145661.1:c.1018-84_1018-83del , LRG_295t1:c.1018-84_1018-83del	NP_001139133.1:n.1018-84_1018-83del
NM_001145662.1:c.1018-126_1018-125del	NP_001139134.1:n.1018-126_1018-125del
NM_032638.4:c.1018-84_1018-83del , LRG_295t2:c.1018-84_1018-83del	NP_116027.2:n.1018-84_1018-83del
NM_001145661.2:c.1018-84_1018-83del MANE Plus Clinical	NP_001139133.1:n.1018-84_1018-83del
NM_032638.5:c.1018-84_1018-83del MANE Select	NP_116027.2:n.1018-84_1018-83del