Canonical Allele Identifier: CA83375131

Gene: GATA2 GATA2-AS1

Linked Data

• dbSNP Id: rs925549529
• gnomAD v2: 3-128211773-C-T
• gnomAD v3: 3-128492930-C-T
• gnomAD v4: 3-128492930-C-T
• MyVariant Identifiers: chr3:g.128211773C>T (hg19) ; chr3:g.128492930C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128492930C>T , CM000665.2:g.128492930C>T	GRCh38
NC_000003.11:g.128211773C>T , CM000665.1:g.128211773C>T	GRCh37
NC_000003.10:g.129694463C>T	NCBI36
NG_029334.1:g.5258G>A , LRG_295:g.5258G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696466.1:c.-225G>A (GATA2)	ENSP00000512647.1:n.-225G>A
ENST00000696654.1:c.-630G>A (GATA2)	ENSP00000512783.1:n.-630G>A
ENST00000696655.1:n.257G>A (GATA2)
ENST00000341105.7:c.-77G>A (GATA2) MANE Select	ENSP00000345681.2:n.-77G>A
ENST00000341105.6:c.-77G>A (GATA2)	ENSP00000345681.2:n.-77G>A
ENST00000498200.1:c.-296G>A (GATA2)	ENSP00000419532.1:n.-296G>A
NM_032638.4:c.-77G>A , LRG_295t2:c.-77G>A (GATA2)	NP_116027.2:n.-77G>A
NR_125398.1:n.759+2861C>T (GATA2-AS1)
NM_032638.5:c.-77G>A (GATA2) MANE Select	NP_116027.2:n.-77G>A