Canonical Allele Identifier: CA1053352912

Gene: GATA2 GATA2-AS1

Linked Data

• dbSNP Id: rs2068791520
• gnomAD v3: 3-128492650-T-C
• gnomAD v4: 3-128492650-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128492650T>C , CM000665.2:g.128492650T>C	GRCh38
NC_000003.11:g.128211493T>C , CM000665.1:g.128211493T>C	GRCh37
NC_000003.10:g.129694183T>C	NCBI36
NG_029334.1:g.5538A>G , LRG_295:g.5538A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696466.1:c.-194+249A>G (GATA2)	ENSP00000512647.1:n.-194+249A>G
ENST00000696654.1:c.-599+249A>G (GATA2)	ENSP00000512783.1:n.-599+249A>G
ENST00000696655.1:n.288+249A>G (GATA2)
ENST00000341105.7:c.-46+249A>G (GATA2) MANE Select	ENSP00000345681.2:n.-46+249A>G
ENST00000341105.6:c.-46+249A>G (GATA2)	ENSP00000345681.2:n.-46+249A>G
ENST00000498200.1:c.-265+249A>G (GATA2)	ENSP00000419532.1:n.-265+249A>G
NM_032638.4:c.-46+249A>G , LRG_295t2:c.-46+249A>G (GATA2)	NP_116027.2:n.-46+249A>G
NR_125398.1:n.759+2581T>C (GATA2-AS1)
NM_032638.5:c.-46+249A>G (GATA2) MANE Select	NP_116027.2:n.-46+249A>G