Canonical Allele Identifier: CA354412886

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1968892
• ClinVar RCV Id: RCV002712134
• dbSNP Id: rs2068623288
• gnomAD v4: 3-128481185-G-T
• MyVariant Identifiers: chr3:g.128200028G>T (hg19) ; chr3:g.128481185G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481185G>T , CM000665.2:g.128481185G>T	GRCh38
NC_000003.11:g.128200028G>T , CM000665.1:g.128200028G>T	GRCh37
NC_000003.10:g.129682718G>T	NCBI36
NG_029334.1:g.17003C>A , LRG_295:g.17003C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1277C>A MANE Plus Clinical	ENSP00000417074.1:p.Ser426Tyr
ENST00000696466.1:c.1559C>A	ENSP00000512647.1:p.Ser520Tyr
ENST00000696672.1:c.252C>A	ENSP00000512796.1:p.Ile84=
ENST00000341105.7:c.1277C>A MANE Select	ENSP00000345681.2:p.Ser426Tyr
ENST00000341105.6:c.1277C>A	ENSP00000345681.2:p.Ser426Tyr
ENST00000430265.6:c.1235C>A	ENSP00000400259.2:p.Ser412Tyr
ENST00000487848.5:c.1277C>A	ENSP00000417074.1:p.Ser426Tyr
ENST00000489987.1:n.394C>A
NM_001145661.1:c.1277C>A , LRG_295t1:c.1277C>A	NP_001139133.1:p.Ser426Tyr
NM_001145662.1:c.1235C>A	NP_001139134.1:p.Ser412Tyr
NM_032638.4:c.1277C>A , LRG_295t2:c.1277C>A	NP_116027.2:p.Ser426Tyr
NM_001145661.2:c.1277C>A MANE Plus Clinical	NP_001139133.1:p.Ser426Tyr
NM_032638.5:c.1277C>A MANE Select	NP_116027.2:p.Ser426Tyr