Canonical Allele Identifier: CA1053353123

Gene: GATA2 GATA2-AS1

Linked Data

• dbSNP Id: rs2068796242
• gnomAD v3: 3-128492970-C-A
• gnomAD v4: 3-128492970-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128492970C>A , CM000665.2:g.128492970C>A	GRCh38
NC_000003.11:g.128211813C>A , CM000665.1:g.128211813C>A	GRCh37
NC_000003.10:g.129694503C>A	NCBI36
NG_029334.1:g.5218G>T , LRG_295:g.5218G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696466.1:c.-265G>T (GATA2)	ENSP00000512647.1:n.-265G>T
ENST00000696654.1:c.-670G>T (GATA2)	ENSP00000512783.1:n.-670G>T
ENST00000696655.1:n.217G>T (GATA2)
ENST00000341105.7:c.-117G>T (GATA2) MANE Select	ENSP00000345681.2:n.-117G>T
ENST00000341105.6:c.-117G>T (GATA2)	ENSP00000345681.2:n.-117G>T
ENST00000498200.1:c.-336G>T (GATA2)	ENSP00000419532.1:n.-336G>T
NM_032638.4:c.-117G>T , LRG_295t2:c.-117G>T (GATA2)	NP_116027.2:n.-117G>T
NR_125398.1:n.759+2901C>A (GATA2-AS1)
NM_032638.5:c.-117G>T (GATA2) MANE Select	NP_116027.2:n.-117G>T