Canonical Allele Identifier: CA898648946

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184023
• ClinVar RCV Id: RCV001541973 ; RCV002568940
• dbSNP Id: rs1255750954
• MyVariant Identifiers: chr3:g.128202004_128202005insA (hg19) ; chr3:g.128483161_128483162insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483167dup , CM000665.2:g.128483167dup	GRCh38
NC_000003.11:g.128202010dup , CM000665.1:g.128202010dup	GRCh37
NC_000003.10:g.129684700dup	NCBI36
NG_029334.1:g.15026dup , LRG_295:g.15026dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1017+698dup MANE Plus Clinical	ENSP00000417074.1:n.1017+698dup
ENST00000696466.1:c.1299+698dup	ENSP00000512647.1:n.1299+698dup
ENST00000341105.7:c.1017+698dup MANE Select	ENSP00000345681.2:n.1017+698dup
ENST00000341105.6:c.1017+698dup	ENSP00000345681.2:n.1017+698dup
ENST00000430265.6:c.1017+698dup	ENSP00000400259.2:n.1017+698dup
ENST00000487848.5:c.1017+698dup	ENSP00000417074.1:n.1017+698dup
NM_001145661.1:c.1017+698dup , LRG_295t1:c.1017+698dup	NP_001139133.1:n.1017+698dup
NM_001145662.1:c.1017+698dup	NP_001139134.1:n.1017+698dup
NM_032638.4:c.1017+698dup , LRG_295t2:c.1017+698dup	NP_116027.2:n.1017+698dup
NM_001145661.2:c.1017+698dup MANE Plus Clinical	NP_001139133.1:n.1017+698dup
NM_032638.5:c.1017+698dup MANE Select	NP_116027.2:n.1017+698dup