Canonical Allele Identifier: CA898657625

Gene: GATA2 GATA2-AS1

Linked Data

• dbSNP Id: rs1192204788
• gnomAD v3: 3-128493051-ATGGTGTTCAGCGGACCGCTTTTGTCCGCC-A
• gnomAD v4: 3-128493051-ATGGTGTTCAGCGGACCGCTTTTGTCCGCC-A
• MyVariant Identifiers: chr3:g.128211895_128211923del (hg19) ; chr3:g.128493052_128493080del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128493057_128493085del , CM000665.2:g.128493057_128493085del	GRCh38
NC_000003.11:g.128211900_128211928del , CM000665.1:g.128211900_128211928del	GRCh37
NC_000003.10:g.129694590_129694618del	NCBI36
NG_029334.1:g.5108_5136del , LRG_295:g.5108_5136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696466.1:c.-375_-347del (GATA2)	ENSP00000512647.1:n.-375_-347del
ENST00000696654.1:c.-780_-752del (GATA2)	ENSP00000512783.1:n.-780_-752del
ENST00000696655.1:n.107_135del (GATA2)
ENST00000341105.7:c.-227_-199del (GATA2) MANE Select	ENSP00000345681.2:n.-227_-199del
ENST00000341105.6:c.-227_-199del (GATA2)	ENSP00000345681.2:n.-227_-199del
ENST00000498200.1:c.-446_-418del (GATA2)	ENSP00000419532.1:n.-446_-418del
NM_032638.4:c.-227_-199del , LRG_295t2:c.-227_-199del (GATA2)	NP_116027.2:n.-227_-199del
NR_125398.1:n.759+2988_759+3016del (GATA2-AS1)
NM_032638.5:c.-227_-199del (GATA2) MANE Select	NP_116027.2:n.-227_-199del