Canonical Allele Identifier: CA354412686
Gene: GATA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481117A>G , CM000665.2:g.128481117A>G GRCh38
NC_000003.11:g.128199960A>G , CM000665.1:g.128199960A>G GRCh37
NC_000003.10:g.129682650A>G NCBI36
NG_029334.1:g.17071T>C , LRG_295:g.17071T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1345T>C MANE Plus Clinical ENSP00000417074.1:p.Ser449Pro
ENST00000696466.1:c.1627T>C ENSP00000512647.1:p.Ser543Pro
ENST00000696672.1:c.320T>C ENSP00000512796.1:p.Leu107Pro
ENST00000341105.7:c.1345T>C MANE Select ENSP00000345681.2:p.Ser449Pro
ENST00000341105.6:c.1345T>C ENSP00000345681.2:p.Ser449Pro
ENST00000430265.6:c.1303T>C ENSP00000400259.2:p.Ser435Pro
ENST00000487848.5:c.1345T>C ENSP00000417074.1:p.Ser449Pro
ENST00000489987.1:n.462T>C
NM_001145661.1:c.1345T>C , LRG_295t1:c.1345T>C NP_001139133.1:p.Ser449Pro
NM_001145662.1:c.1303T>C NP_001139134.1:p.Ser435Pro
NM_032638.4:c.1345T>C , LRG_295t2:c.1345T>C NP_116027.2:p.Ser449Pro
NM_001145661.2:c.1345T>C MANE Plus Clinical NP_001139133.1:p.Ser449Pro
NM_032638.5:c.1345T>C MANE Select NP_116027.2:p.Ser449Pro