Canonical Allele Identifier: CA354407716

Gene: GATA2

Linked Data

• ClinVar Variation Id: 2941529
• ClinVar RCV Id: RCV003795231
• MyVariant Identifiers: chr3:g.128205173A>C (hg19) ; chr3:g.128486330A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486330A>C , CM000665.2:g.128486330A>C	GRCh38
NC_000003.11:g.128205173A>C , CM000665.1:g.128205173A>C	GRCh37
NC_000003.10:g.129687863A>C	NCBI36
NG_029334.1:g.11858T>G , LRG_295:g.11858T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.268T>G MANE Plus Clinical	ENSP00000417074.1:p.Leu90Val
ENST00000696466.1:c.550T>G	ENSP00000512647.1:p.Leu184Val
ENST00000341105.7:c.268T>G MANE Select	ENSP00000345681.2:p.Leu90Val
ENST00000341105.6:c.268T>G	ENSP00000345681.2:p.Leu90Val
ENST00000430265.6:c.268T>G	ENSP00000400259.2:p.Leu90Val
ENST00000487848.5:c.268T>G	ENSP00000417074.1:p.Leu90Val
ENST00000492608.1:c.268T>G	ENSP00000418132.1:p.Leu90Val
NM_001145661.1:c.268T>G , LRG_295t1:c.268T>G	NP_001139133.1:p.Leu90Val
NM_001145662.1:c.268T>G	NP_001139134.1:p.Leu90Val
NM_032638.4:c.268T>G , LRG_295t2:c.268T>G	NP_116027.2:p.Leu90Val
NM_001145661.2:c.268T>G MANE Plus Clinical	NP_001139133.1:p.Leu90Val
NM_032638.5:c.268T>G MANE Select	NP_116027.2:p.Leu90Val