Canonical Allele Identifier: CA898649382

Gene: GATA2

Linked Data

• dbSNP Id: rs1186570827
• gnomAD v3: 3-128483782-AAGG-A
• gnomAD v4: 3-128483782-AAGG-A
• MyVariant Identifiers: chr3:g.128202626_128202628del (hg19) ; chr3:g.128483783_128483785del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483785_128483787del , CM000665.2:g.128483785_128483787del	GRCh38
NC_000003.11:g.128202628_128202630del , CM000665.1:g.128202628_128202630del	GRCh37
NC_000003.10:g.129685318_129685320del	NCBI36
NG_029334.1:g.14403_14405del , LRG_295:g.14403_14405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1017+75_1017+77del MANE Plus Clinical	ENSP00000417074.1:n.1017+75_1017+77del
ENST00000696466.1:c.1299+75_1299+77del	ENSP00000512647.1:n.1299+75_1299+77del
ENST00000341105.7:c.1017+75_1017+77del MANE Select	ENSP00000345681.2:n.1017+75_1017+77del
ENST00000341105.6:c.1017+75_1017+77del	ENSP00000345681.2:n.1017+75_1017+77del
ENST00000430265.6:c.1017+75_1017+77del	ENSP00000400259.2:n.1017+75_1017+77del
ENST00000487848.5:c.1017+75_1017+77del	ENSP00000417074.1:n.1017+75_1017+77del
NM_001145661.1:c.1017+75_1017+77del , LRG_295t1:c.1017+75_1017+77del	NP_001139133.1:n.1017+75_1017+77del
NM_001145662.1:c.1017+75_1017+77del	NP_001139134.1:n.1017+75_1017+77del
NM_032638.4:c.1017+75_1017+77del , LRG_295t2:c.1017+75_1017+77del	NP_116027.2:n.1017+75_1017+77del
NM_001145661.2:c.1017+75_1017+77del MANE Plus Clinical	NP_001139133.1:n.1017+75_1017+77del
NM_032638.5:c.1017+75_1017+77del MANE Select	NP_116027.2:n.1017+75_1017+77del