Canonical Allele Identifier: CA435764796
Community Standard Title: NM_032638.5(GATA2):c.15C>A (p.Pro5=)
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128487017G>T , CM000665.2:g.128487017G>T GRCh38
NC_000003.11:g.128205860G>T , CM000665.1:g.128205860G>T GRCh37
NC_000003.10:g.129688550G>T NCBI36
NG_029334.1:g.11171C>A , LRG_295:g.11171C>A

Transcript Alleles

HGVS Amino-acid Change
NM_032638.5:c.15C>A MANE Select NP_116027.2:p.Pro5=
ENST00000341105.7:c.15C>A MANE Select ENSP00000345681.2:p.Pro5=
NM_001145661.2:c.15C>A MANE Plus Clinical NP_001139133.1:p.Pro5=
ENST00000487848.6:c.15C>A MANE Plus Clinical ENSP00000417074.1:p.Pro5=
NM_001145661.1:c.15C>A , LRG_295t1:c.15C>A NP_001139133.1:p.Pro5=
NM_001145662.1:c.15C>A NP_001139134.1:p.Pro5=
NM_032638.4:c.15C>A , LRG_295t2:c.15C>A NP_116027.2:p.Pro5=
ENST00000341105.6:c.15C>A ENSP00000345681.2:p.Pro5=
ENST00000430265.6:c.15C>A ENSP00000400259.2:p.Pro5=
ENST00000487848.5:c.15C>A ENSP00000417074.1:p.Pro5=
ENST00000492608.1:c.15C>A ENSP00000418132.1:p.Pro5=
ENST00000498200.1:c.15C>A ENSP00000419532.1:p.Pro5=
ENST00000696466.1:c.297C>A ENSP00000512647.1:p.Pro99=
ENST00000696652.1:c.15C>A ENSP00000512781.1:p.Pro5=
ENST00000696653.1:c.15C>A ENSP00000512782.1:p.Pro5=
ENST00000696654.1:c.15C>A ENSP00000512783.1:p.Pro5=
ENST00000696661.1:c.15C>A ENSP00000512787.1:p.Pro5=