Canonical Allele Identifier: CA354413571

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184157
• ClinVar RCV Id: RCV001542119
• dbSNP Id: rs867160952
• COSMIC: COSM255086
• MyVariant Identifiers: chr3:g.128200720C>G (hg19) ; chr3:g.128481877C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481877C>G , CM000665.2:g.128481877C>G	GRCh38
NC_000003.11:g.128200720C>G , CM000665.1:g.128200720C>G	GRCh37
NC_000003.10:g.129683410C>G	NCBI36
NG_029334.1:g.16311G>C , LRG_295:g.16311G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1085G>C MANE Plus Clinical	ENSP00000417074.1:p.Arg362Pro
ENST00000696466.1:c.1367G>C	ENSP00000512647.1:p.Arg456Pro
ENST00000696672.1:c.68G>C	ENSP00000512796.1:p.Arg23Pro
ENST00000341105.7:c.1085G>C MANE Select	ENSP00000345681.2:p.Arg362Pro
ENST00000341105.6:c.1085G>C	ENSP00000345681.2:p.Arg362Pro
ENST00000430265.6:c.1043G>C	ENSP00000400259.2:p.Arg348Pro
ENST00000487848.5:c.1085G>C	ENSP00000417074.1:p.Arg362Pro
ENST00000489987.1:n.202G>C
NM_001145661.1:c.1085G>C , LRG_295t1:c.1085G>C	NP_001139133.1:p.Arg362Pro
NM_001145662.1:c.1043G>C	NP_001139134.1:p.Arg348Pro
NM_032638.4:c.1085G>C , LRG_295t2:c.1085G>C	NP_116027.2:p.Arg362Pro
NM_001145661.2:c.1085G>C MANE Plus Clinical	NP_001139133.1:p.Arg362Pro
NM_032638.5:c.1085G>C MANE Select	NP_116027.2:p.Arg362Pro