Canonical Allele Identifier: CA83375148

Gene: GATA2 GATA2-AS1

Linked Data

• dbSNP Id: rs915550032
• gnomAD v4: 3-128492959-A-G
• MyVariant Identifiers: chr3:g.128211802A>G (hg19) ; chr3:g.128492959A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128492959A>G , CM000665.2:g.128492959A>G	GRCh38
NC_000003.11:g.128211802A>G , CM000665.1:g.128211802A>G	GRCh37
NC_000003.10:g.129694492A>G	NCBI36
NG_029334.1:g.5229T>C , LRG_295:g.5229T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696466.1:c.-254T>C (GATA2)	ENSP00000512647.1:n.-254T>C
ENST00000696654.1:c.-659T>C (GATA2)	ENSP00000512783.1:n.-659T>C
ENST00000696655.1:n.228T>C (GATA2)
ENST00000341105.7:c.-106T>C (GATA2) MANE Select	ENSP00000345681.2:n.-106T>C
ENST00000341105.6:c.-106T>C (GATA2)	ENSP00000345681.2:n.-106T>C
ENST00000498200.1:c.-325T>C (GATA2)	ENSP00000419532.1:n.-325T>C
NM_032638.4:c.-106T>C , LRG_295t2:c.-106T>C (GATA2)	NP_116027.2:n.-106T>C
NR_125398.1:n.759+2890A>G (GATA2-AS1)
NM_032638.5:c.-106T>C (GATA2) MANE Select	NP_116027.2:n.-106T>C