Canonical Allele Identifier: CA1053352839

Gene: GATA2 GATA2-AS1

Linked Data

• dbSNP Id: rs2068790361
• gnomAD v3: 3-128492544-G-T
• gnomAD v4: 3-128492544-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128492544G>T , CM000665.2:g.128492544G>T	GRCh38
NC_000003.11:g.128211387G>T , CM000665.1:g.128211387G>T	GRCh37
NC_000003.10:g.129694077G>T	NCBI36
NG_029334.1:g.5644C>A , LRG_295:g.5644C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696466.1:c.-193-322C>A (GATA2)	ENSP00000512647.1:n.-193-322C>A
ENST00000696654.1:c.-598-322C>A (GATA2)	ENSP00000512783.1:n.-598-322C>A
ENST00000696655.1:n.288+355C>A (GATA2)
ENST00000341105.7:c.-46+355C>A (GATA2) MANE Select	ENSP00000345681.2:n.-46+355C>A
ENST00000341105.6:c.-46+355C>A (GATA2)	ENSP00000345681.2:n.-46+355C>A
ENST00000498200.1:c.-264-322C>A (GATA2)	ENSP00000419532.1:n.-264-322C>A
NM_032638.4:c.-46+355C>A , LRG_295t2:c.-46+355C>A (GATA2)	NP_116027.2:n.-46+355C>A
NR_125398.1:n.759+2475G>T (GATA2-AS1)
NM_032638.5:c.-46+355C>A (GATA2) MANE Select	NP_116027.2:n.-46+355C>A