Canonical Allele Identifier: CA354409236

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128487002C>G , CM000665.2:g.128487002C>G	GRCh38
NC_000003.11:g.128205845C>G , CM000665.1:g.128205845C>G	GRCh37
NC_000003.10:g.129688535C>G	NCBI36
NG_029334.1:g.11186G>C , LRG_295:g.11186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.30G>C MANE Plus Clinical	ENSP00000417074.1:p.Trp10Cys
ENST00000696466.1:c.312G>C	ENSP00000512647.1:p.Trp104Cys
ENST00000696652.1:c.30G>C	ENSP00000512781.1:p.Trp10Cys
ENST00000696653.1:c.30G>C	ENSP00000512782.1:p.Trp10Cys
ENST00000696654.1:c.30G>C	ENSP00000512783.1:p.Trp10Cys
ENST00000696661.1:c.30G>C	ENSP00000512787.1:p.Trp10Cys
ENST00000341105.7:c.30G>C MANE Select	ENSP00000345681.2:p.Trp10Cys
ENST00000341105.6:c.30G>C	ENSP00000345681.2:p.Trp10Cys
ENST00000430265.6:c.30G>C	ENSP00000400259.2:p.Trp10Cys
ENST00000487848.5:c.30G>C	ENSP00000417074.1:p.Trp10Cys
ENST00000492608.1:c.30G>C	ENSP00000418132.1:p.Trp10Cys
NM_001145661.1:c.30G>C , LRG_295t1:c.30G>C	NP_001139133.1:p.Trp10Cys
NM_001145662.1:c.30G>C	NP_001139134.1:p.Trp10Cys
NM_032638.4:c.30G>C , LRG_295t2:c.30G>C	NP_116027.2:p.Trp10Cys
NM_001145661.2:c.30G>C MANE Plus Clinical	NP_001139133.1:p.Trp10Cys
NM_032638.5:c.30G>C MANE Select	NP_116027.2:p.Trp10Cys