Canonical Allele Identifier: CA1053360712

Gene: GATA2

Linked Data

• dbSNP Id: rs2068614413
• gnomAD v3: 3-128480687-T-TATTTTTGCCTTAGG
• gnomAD v4: 3-128480687-T-TATTTTTGCCTTAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480697_128480698insTAGGATTTTTGCCT , CM000665.2:g.128480697_128480698insTAGGATTTTTGCCT	GRCh38
NC_000003.11:g.128199540_128199541insTAGGATTTTTGCCT , CM000665.1:g.128199540_128199541insTAGGATTTTTGCCT	GRCh37
NC_000003.10:g.129682230_129682231insTAGGATTTTTGCCT	NCBI36
NG_029334.1:g.17500_17501insCCTAAGGCAAAAAT , LRG_295:g.17500_17501insCCTAAGGCAAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*331_*332insCCTAAGGCAAAAAT MANE Plus Clinical	ENSP00000417074.1:n.*331_*332insCCTAAGGCAAAAAT
ENST00000696466.1:c.*331_*332insCCTAAGGCAAAAAT	ENSP00000512647.1:n.*331_*332insCCTAAGGCAAAAAT
ENST00000696672.1:c.749_750insCCTAAGGCAAAAAT	ENSP00000512796.1:n.749_750insCCTAAGGCAAAAAT
ENST00000341105.7:c.*331_*332insCCTAAGGCAAAAAT MANE Select	ENSP00000345681.2:n.*331_*332insCCTAAGGCAAAAAT
ENST00000341105.6:c.*331_*332insCCTAAGGCAAAAAT	ENSP00000345681.2:n.*331_*332insCCTAAGGCAAAAAT
ENST00000430265.6:c.*331_*332insCCTAAGGCAAAAAT	ENSP00000400259.2:n.*331_*332insCCTAAGGCAAAAAT
ENST00000489987.1:n.891_892insCCTAAGGCAAAAAT
NM_001145661.1:c.*331_*332insCCTAAGGCAAAAAT , LRG_295t1:c.*331_*332insCCTAAGGCAAAAAT	NP_001139133.1:n.*331_*332insCCTAAGGCAAAAAT
NM_001145662.1:c.*331_*332insCCTAAGGCAAAAAT	NP_001139134.1:n.*331_*332insCCTAAGGCAAAAAT
NM_032638.4:c.*331_*332insCCTAAGGCAAAAAT , LRG_295t2:c.*331_*332insCCTAAGGCAAAAAT	NP_116027.2:n.*331_*332insCCTAAGGCAAAAAT
NM_001145661.2:c.*331_*332insCCTAAGGCAAAAAT MANE Plus Clinical	NP_001139133.1:n.*331_*332insCCTAAGGCAAAAAT
NM_032638.5:c.*331_*332insCCTAAGGCAAAAAT MANE Select	NP_116027.2:n.*331_*332insCCTAAGGCAAAAAT