Canonical Allele Identifier: CA354412703

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184017
• ClinVar RCV Id: RCV001541963
• dbSNP Id: rs1338194519
• gnomAD v2: 3-128199964-G-T
• MyVariant Identifiers: chr3:g.128199964G>T (hg19) ; chr3:g.128481121G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481121G>T , CM000665.2:g.128481121G>T	GRCh38
NC_000003.11:g.128199964G>T , CM000665.1:g.128199964G>T	GRCh37
NC_000003.10:g.129682654G>T	NCBI36
NG_029334.1:g.17067C>A , LRG_295:g.17067C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1341C>A MANE Plus Clinical	ENSP00000417074.1:p.Ser447Arg
ENST00000696466.1:c.1623C>A	ENSP00000512647.1:p.Ser541Arg
ENST00000696672.1:c.316C>A	ENSP00000512796.1:p.Pro106Thr
ENST00000341105.7:c.1341C>A MANE Select	ENSP00000345681.2:p.Ser447Arg
ENST00000341105.6:c.1341C>A	ENSP00000345681.2:p.Ser447Arg
ENST00000430265.6:c.1299C>A	ENSP00000400259.2:p.Ser433Arg
ENST00000487848.5:c.1341C>A	ENSP00000417074.1:p.Ser447Arg
ENST00000489987.1:n.458C>A
NM_001145661.1:c.1341C>A , LRG_295t1:c.1341C>A	NP_001139133.1:p.Ser447Arg
NM_001145662.1:c.1299C>A	NP_001139134.1:p.Ser433Arg
NM_032638.4:c.1341C>A , LRG_295t2:c.1341C>A	NP_116027.2:p.Ser447Arg
NM_001145661.2:c.1341C>A MANE Plus Clinical	NP_001139133.1:p.Ser447Arg
NM_032638.5:c.1341C>A MANE Select	NP_116027.2:p.Ser447Arg