Canonical Allele Identifier: CA1400714558

Gene: GATA2

Linked Data

• dbSNP Id: rs2068627117
• gnomAD v4: 3-128481430-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481432del , CM000665.2:g.128481432del	GRCh38
NC_000003.11:g.128200275del , CM000665.1:g.128200275del	GRCh37
NC_000003.10:g.129682965del	NCBI36
NG_029334.1:g.16757del , LRG_295:g.16757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1144-113del MANE Plus Clinical	ENSP00000417074.1:n.1144-113del
ENST00000696466.1:c.1426-113del	ENSP00000512647.1:n.1426-113del
ENST00000696672.1:c.127-121del	ENSP00000512796.1:n.127-121del
ENST00000341105.7:c.1144-113del MANE Select	ENSP00000345681.2:n.1144-113del
ENST00000341105.6:c.1144-113del	ENSP00000345681.2:n.1144-113del
ENST00000430265.6:c.1102-113del	ENSP00000400259.2:n.1102-113del
ENST00000487848.5:c.1144-113del	ENSP00000417074.1:n.1144-113del
ENST00000489987.1:n.261-113del
NM_001145661.1:c.1144-113del , LRG_295t1:c.1144-113del	NP_001139133.1:n.1144-113del
NM_001145662.1:c.1102-113del	NP_001139134.1:n.1102-113del
NM_032638.4:c.1144-113del , LRG_295t2:c.1144-113del	NP_116027.2:n.1144-113del
NM_001145661.2:c.1144-113del MANE Plus Clinical	NP_001139133.1:n.1144-113del
NM_032638.5:c.1144-113del MANE Select	NP_116027.2:n.1144-113del