Canonical Allele Identifier: CA83374896

Gene: GATA2 GATA2-AS1

Linked Data

• dbSNP Id: rs746747595
• MyVariant Identifiers: chr3:g.128211359_128211360insGCA (hg19) ; chr3:g.128492516_128492517insGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128492519_128492521dup , CM000665.2:g.128492519_128492521dup	GRCh38
NC_000003.11:g.128211362_128211364dup , CM000665.1:g.128211362_128211364dup	GRCh37
NC_000003.10:g.129694052_129694054dup	NCBI36
NG_029334.1:g.5669_5671dup , LRG_295:g.5669_5671dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696466.1:c.-193-297_-193-295dup (GATA2)	ENSP00000512647.1:n.-193-297_-193-295dup
ENST00000696654.1:c.-598-297_-598-295dup (GATA2)	ENSP00000512783.1:n.-598-297_-598-295dup
ENST00000696655.1:n.288+380_288+382dup (GATA2)
ENST00000341105.7:c.-46+380_-46+382dup (GATA2) MANE Select	ENSP00000345681.2:n.-46+380_-46+382dup
ENST00000341105.6:c.-46+380_-46+382dup (GATA2)	ENSP00000345681.2:n.-46+380_-46+382dup
ENST00000498200.1:c.-264-297_-264-295dup (GATA2)	ENSP00000419532.1:n.-264-297_-264-295dup
NM_032638.4:c.-46+380_-46+382dup , LRG_295t2:c.-46+380_-46+382dup (GATA2)	NP_116027.2:n.-46+380_-46+382dup
NR_125398.1:n.759+2450_759+2452dup (GATA2-AS1)
NM_032638.5:c.-46+380_-46+382dup (GATA2) MANE Select	NP_116027.2:n.-46+380_-46+382dup