Canonical Allele Identifier: CA354412442

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1958439
• ClinVar RCV Id: RCV002696072
• dbSNP Id: rs1228557730
• MyVariant Identifiers: chr3:g.128199884C>G (hg19) ; chr3:g.128481041C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481041C>G , CM000665.2:g.128481041C>G	GRCh38
NC_000003.11:g.128199884C>G , CM000665.1:g.128199884C>G	GRCh37
NC_000003.10:g.129682574C>G	NCBI36
NG_029334.1:g.17147G>C , LRG_295:g.17147G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1421G>C MANE Plus Clinical	ENSP00000417074.1:p.Ser474Thr
ENST00000696466.1:c.1703G>C	ENSP00000512647.1:p.Ser568Thr
ENST00000696672.1:c.396G>C	ENSP00000512796.1:p.Gln132His
ENST00000341105.7:c.1421G>C MANE Select	ENSP00000345681.2:p.Ser474Thr
ENST00000341105.6:c.1421G>C	ENSP00000345681.2:p.Ser474Thr
ENST00000430265.6:c.1379G>C	ENSP00000400259.2:p.Ser460Thr
ENST00000487848.5:c.1421G>C	ENSP00000417074.1:p.Ser474Thr
ENST00000489987.1:n.538G>C
NM_001145661.1:c.1421G>C , LRG_295t1:c.1421G>C	NP_001139133.1:p.Ser474Thr
NM_001145662.1:c.1379G>C	NP_001139134.1:p.Ser460Thr
NM_032638.4:c.1421G>C , LRG_295t2:c.1421G>C	NP_116027.2:p.Ser474Thr
NM_001145661.2:c.1421G>C MANE Plus Clinical	NP_001139133.1:p.Ser474Thr
NM_032638.5:c.1421G>C MANE Select	NP_116027.2:p.Ser474Thr