Canonical Allele Identifier: CA546099348

Gene: GATA2 GATA2-AS1

Linked Data

• dbSNP Id: rs1415192405
• gnomAD v2: 3-128211360-G-A
• gnomAD v3: 3-128492517-G-A
• gnomAD v4: 3-128492517-G-A
• MyVariant Identifiers: chr3:g.128211360G>A (hg19) ; chr3:g.128492517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128492517G>A , CM000665.2:g.128492517G>A	GRCh38
NC_000003.11:g.128211360G>A , CM000665.1:g.128211360G>A	GRCh37
NC_000003.10:g.129694050G>A	NCBI36
NG_029334.1:g.5671C>T , LRG_295:g.5671C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696466.1:c.-193-295C>T (GATA2)	ENSP00000512647.1:n.-193-295C>T
ENST00000696654.1:c.-598-295C>T (GATA2)	ENSP00000512783.1:n.-598-295C>T
ENST00000696655.1:n.288+382C>T (GATA2)
ENST00000341105.7:c.-46+382C>T (GATA2) MANE Select	ENSP00000345681.2:n.-46+382C>T
ENST00000341105.6:c.-46+382C>T (GATA2)	ENSP00000345681.2:n.-46+382C>T
ENST00000498200.1:c.-264-295C>T (GATA2)	ENSP00000419532.1:n.-264-295C>T
NM_032638.4:c.-46+382C>T , LRG_295t2:c.-46+382C>T (GATA2)	NP_116027.2:n.-46+382C>T
NR_125398.1:n.759+2448G>A (GATA2-AS1)
NM_032638.5:c.-46+382C>T (GATA2) MANE Select	NP_116027.2:n.-46+382C>T