Canonical Allele Identifier: CA2599976

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1314999
• ClinVar RCV Id: RCV001766040 ; RCV002540576
• dbSNP Id: rs745497331
• ExAC: 3:128204744 G / C
• gnomAD v2: 3-128204744-G-C
• gnomAD v4: 3-128485901-G-C
• MyVariant Identifiers: chr3:g.128204744G>C (hg19) ; chr3:g.128485901G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128485901G>C , CM000665.2:g.128485901G>C	GRCh38
NC_000003.11:g.128204744G>C , CM000665.1:g.128204744G>C	GRCh37
NC_000003.10:g.129687434G>C	NCBI36
NG_029334.1:g.12287C>G , LRG_295:g.12287C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.697C>G MANE Plus Clinical	ENSP00000417074.1:p.Leu233Val
ENST00000696466.1:c.979C>G	ENSP00000512647.1:p.Leu327Val
ENST00000341105.7:c.697C>G MANE Select	ENSP00000345681.2:p.Leu233Val
ENST00000341105.6:c.697C>G	ENSP00000345681.2:p.Leu233Val
ENST00000430265.6:c.697C>G	ENSP00000400259.2:p.Leu233Val
ENST00000487848.5:c.697C>G	ENSP00000417074.1:p.Leu233Val
NM_001145661.1:c.697C>G , LRG_295t1:c.697C>G	NP_001139133.1:p.Leu233Val
NM_001145662.1:c.697C>G	NP_001139134.1:p.Leu233Val
NM_032638.4:c.697C>G , LRG_295t2:c.697C>G	NP_116027.2:p.Leu233Val
NM_001145661.2:c.697C>G MANE Plus Clinical	NP_001139133.1:p.Leu233Val
NM_032638.5:c.697C>G MANE Select	NP_116027.2:p.Leu233Val