Canonical Allele Identifier: CA354407029

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1377731
• ClinVar RCV Id: RCV001880805
• dbSNP Id: rs1163426216
• MyVariant Identifiers: chr3:g.128205062G>T (hg19) ; chr3:g.128486219G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486219G>T , CM000665.2:g.128486219G>T	GRCh38
NC_000003.11:g.128205062G>T , CM000665.1:g.128205062G>T	GRCh37
NC_000003.10:g.129687752G>T	NCBI36
NG_029334.1:g.11969C>A , LRG_295:g.11969C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.379C>A MANE Plus Clinical	ENSP00000417074.1:p.His127Asn
ENST00000696466.1:c.661C>A	ENSP00000512647.1:p.His221Asn
ENST00000341105.7:c.379C>A MANE Select	ENSP00000345681.2:p.His127Asn
ENST00000341105.6:c.379C>A	ENSP00000345681.2:p.His127Asn
ENST00000430265.6:c.379C>A	ENSP00000400259.2:p.His127Asn
ENST00000487848.5:c.379C>A	ENSP00000417074.1:p.His127Asn
ENST00000492608.1:c.379C>A	ENSP00000418132.1:p.His127Asn
NM_001145661.1:c.379C>A , LRG_295t1:c.379C>A	NP_001139133.1:p.His127Asn
NM_001145662.1:c.379C>A	NP_001139134.1:p.His127Asn
NM_032638.4:c.379C>A , LRG_295t2:c.379C>A	NP_116027.2:p.His127Asn
NM_001145661.2:c.379C>A MANE Plus Clinical	NP_001139133.1:p.His127Asn
NM_032638.5:c.379C>A MANE Select	NP_116027.2:p.His127Asn