Canonical Allele Identifier: CA546099364

Gene: GATA2 GATA2-AS1

Linked Data

• dbSNP Id: rs1353071571
• gnomAD v2: 3-128211397-C-A
• gnomAD v3: 3-128492554-C-A
• gnomAD v4: 3-128492554-C-A
• MyVariant Identifiers: chr3:g.128211397C>A (hg19) ; chr3:g.128492554C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128492554C>A , CM000665.2:g.128492554C>A	GRCh38
NC_000003.11:g.128211397C>A , CM000665.1:g.128211397C>A	GRCh37
NC_000003.10:g.129694087C>A	NCBI36
NG_029334.1:g.5634G>T , LRG_295:g.5634G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696466.1:c.-193-332G>T (GATA2)	ENSP00000512647.1:n.-193-332G>T
ENST00000696654.1:c.-598-332G>T (GATA2)	ENSP00000512783.1:n.-598-332G>T
ENST00000696655.1:n.288+345G>T (GATA2)
ENST00000341105.7:c.-46+345G>T (GATA2) MANE Select	ENSP00000345681.2:n.-46+345G>T
ENST00000341105.6:c.-46+345G>T (GATA2)	ENSP00000345681.2:n.-46+345G>T
ENST00000498200.1:c.-264-332G>T (GATA2)	ENSP00000419532.1:n.-264-332G>T
NM_032638.4:c.-46+345G>T , LRG_295t2:c.-46+345G>T (GATA2)	NP_116027.2:n.-46+345G>T
NR_125398.1:n.759+2485C>A (GATA2-AS1)
NM_032638.5:c.-46+345G>T (GATA2) MANE Select	NP_116027.2:n.-46+345G>T