Canonical Allele Identifier: CA917003375

Gene: GATA2

Linked Data

• dbSNP Id: rs1559985319
• gnomAD v4: 3-128482190-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128482192_128482193del , CM000665.2:g.128482192_128482193del	GRCh38
NC_000003.11:g.128201035_128201036del , CM000665.1:g.128201035_128201036del	GRCh37
NC_000003.10:g.129683725_129683726del	NCBI36
NG_029334.1:g.15996_15997del , LRG_295:g.15996_15997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1018-248_1018-247del MANE Plus Clinical	ENSP00000417074.1:n.1018-248_1018-247del
ENST00000696466.1:c.1300-248_1300-247del	ENSP00000512647.1:n.1300-248_1300-247del
ENST00000341105.7:c.1018-248_1018-247del MANE Select	ENSP00000345681.2:n.1018-248_1018-247del
ENST00000341105.6:c.1018-248_1018-247del	ENSP00000345681.2:n.1018-248_1018-247del
ENST00000430265.6:c.1018-290_1018-289del	ENSP00000400259.2:n.1018-290_1018-289del
ENST00000487848.5:c.1018-248_1018-247del	ENSP00000417074.1:n.1018-248_1018-247del
NM_001145661.1:c.1018-248_1018-247del , LRG_295t1:c.1018-248_1018-247del	NP_001139133.1:n.1018-248_1018-247del
NM_001145662.1:c.1018-290_1018-289del	NP_001139134.1:n.1018-290_1018-289del
NM_032638.4:c.1018-248_1018-247del , LRG_295t2:c.1018-248_1018-247del	NP_116027.2:n.1018-248_1018-247del
NM_001145661.2:c.1018-248_1018-247del MANE Plus Clinical	NP_001139133.1:n.1018-248_1018-247del
NM_032638.5:c.1018-248_1018-247del MANE Select	NP_116027.2:n.1018-248_1018-247del