Canonical Allele Identifier: CA354412742

Gene: GATA2

Linked Data

• MyVariant Identifiers: chr3:g.128199977A>G (hg19) ; chr3:g.128481134A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481134A>G , CM000665.2:g.128481134A>G	GRCh38
NC_000003.11:g.128199977A>G , CM000665.1:g.128199977A>G	GRCh37
NC_000003.10:g.129682667A>G	NCBI36
NG_029334.1:g.17054T>C , LRG_295:g.17054T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1328T>C MANE Plus Clinical	ENSP00000417074.1:p.Leu443Pro
ENST00000696466.1:c.1610T>C	ENSP00000512647.1:p.Leu537Pro
ENST00000696672.1:c.303T>C	ENSP00000512796.1:p.Pro101=
ENST00000341105.7:c.1328T>C MANE Select	ENSP00000345681.2:p.Leu443Pro
ENST00000341105.6:c.1328T>C	ENSP00000345681.2:p.Leu443Pro
ENST00000430265.6:c.1286T>C	ENSP00000400259.2:p.Leu429Pro
ENST00000487848.5:c.1328T>C	ENSP00000417074.1:p.Leu443Pro
ENST00000489987.1:n.445T>C
NM_001145661.1:c.1328T>C , LRG_295t1:c.1328T>C	NP_001139133.1:p.Leu443Pro
NM_001145662.1:c.1286T>C	NP_001139134.1:p.Leu429Pro
NM_032638.4:c.1328T>C , LRG_295t2:c.1328T>C	NP_116027.2:p.Leu443Pro
NM_001145661.2:c.1328T>C MANE Plus Clinical	NP_001139133.1:p.Leu443Pro
NM_032638.5:c.1328T>C MANE Select	NP_116027.2:p.Leu443Pro