Canonical Allele Identifier: CA354412481

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1044942
• ClinVar RCV Id: RCV001349271
• dbSNP Id: rs1449742251
• gnomAD v4: 3-128481053-G-C
• MyVariant Identifiers: chr3:g.128199896G>C (hg19) ; chr3:g.128481053G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481053G>C , CM000665.2:g.128481053G>C	GRCh38
NC_000003.11:g.128199896G>C , CM000665.1:g.128199896G>C	GRCh37
NC_000003.10:g.129682586G>C	NCBI36
NG_029334.1:g.17135C>G , LRG_295:g.17135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1409C>G MANE Plus Clinical	ENSP00000417074.1:p.Pro470Arg
ENST00000696466.1:c.1691C>G	ENSP00000512647.1:p.Pro564Arg
ENST00000696672.1:c.384C>G	ENSP00000512796.1:p.Pro128=
ENST00000341105.7:c.1409C>G MANE Select	ENSP00000345681.2:p.Pro470Arg
ENST00000341105.6:c.1409C>G	ENSP00000345681.2:p.Pro470Arg
ENST00000430265.6:c.1367C>G	ENSP00000400259.2:p.Pro456Arg
ENST00000487848.5:c.1409C>G	ENSP00000417074.1:p.Pro470Arg
ENST00000489987.1:n.526C>G
NM_001145661.1:c.1409C>G , LRG_295t1:c.1409C>G	NP_001139133.1:p.Pro470Arg
NM_001145662.1:c.1367C>G	NP_001139134.1:p.Pro456Arg
NM_032638.4:c.1409C>G , LRG_295t2:c.1409C>G	NP_116027.2:p.Pro470Arg
NM_001145661.2:c.1409C>G MANE Plus Clinical	NP_001139133.1:p.Pro470Arg
NM_032638.5:c.1409C>G MANE Select	NP_116027.2:p.Pro470Arg