Canonical Allele Identifier: CA83375018

Gene: GATA2 GATA2-AS1

Linked Data

• dbSNP Id: rs1050851715
• gnomAD v2: 3-128211594-C-G
• gnomAD v3: 3-128492751-C-G
• gnomAD v4: 3-128492751-C-G
• MyVariant Identifiers: chr3:g.128211594C>G (hg19) ; chr3:g.128492751C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128492751C>G , CM000665.2:g.128492751C>G	GRCh38
NC_000003.11:g.128211594C>G , CM000665.1:g.128211594C>G	GRCh37
NC_000003.10:g.129694284C>G	NCBI36
NG_029334.1:g.5437G>C , LRG_295:g.5437G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696466.1:c.-194+148G>C (GATA2)	ENSP00000512647.1:n.-194+148G>C
ENST00000696654.1:c.-599+148G>C (GATA2)	ENSP00000512783.1:n.-599+148G>C
ENST00000696655.1:n.288+148G>C (GATA2)
ENST00000341105.7:c.-46+148G>C (GATA2) MANE Select	ENSP00000345681.2:n.-46+148G>C
ENST00000341105.6:c.-46+148G>C (GATA2)	ENSP00000345681.2:n.-46+148G>C
ENST00000498200.1:c.-265+148G>C (GATA2)	ENSP00000419532.1:n.-265+148G>C
NM_032638.4:c.-46+148G>C , LRG_295t2:c.-46+148G>C (GATA2)	NP_116027.2:n.-46+148G>C
NR_125398.1:n.759+2682C>G (GATA2-AS1)
NM_032638.5:c.-46+148G>C (GATA2) MANE Select	NP_116027.2:n.-46+148G>C