Canonical Allele Identifier: CA2758339146

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483348_128483350del , CM000665.2:g.128483348_128483350del	GRCh38
NC_000003.11:g.128202191_128202193del , CM000665.1:g.128202191_128202193del	GRCh37
NC_000003.10:g.129684881_129684883del	NCBI36
NG_029334.1:g.14839_14841del , LRG_295:g.14839_14841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1017+511_1017+513del MANE Plus Clinical	ENSP00000417074.1:n.1017+511_1017+513del
ENST00000696466.1:c.1299+511_1299+513del	ENSP00000512647.1:n.1299+511_1299+513del
ENST00000341105.7:c.1017+511_1017+513del MANE Select	ENSP00000345681.2:n.1017+511_1017+513del
ENST00000341105.6:c.1017+511_1017+513del	ENSP00000345681.2:n.1017+511_1017+513del
ENST00000430265.6:c.1017+511_1017+513del	ENSP00000400259.2:n.1017+511_1017+513del
ENST00000487848.5:c.1017+511_1017+513del	ENSP00000417074.1:n.1017+511_1017+513del
NM_001145661.1:c.1017+511_1017+513del , LRG_295t1:c.1017+511_1017+513del	NP_001139133.1:n.1017+511_1017+513del
NM_001145662.1:c.1017+511_1017+513del	NP_001139134.1:n.1017+511_1017+513del
NM_032638.4:c.1017+511_1017+513del , LRG_295t2:c.1017+511_1017+513del	NP_116027.2:n.1017+511_1017+513del
NM_001145661.2:c.1017+511_1017+513del MANE Plus Clinical	NP_001139133.1:n.1017+511_1017+513del
NM_032638.5:c.1017+511_1017+513del MANE Select	NP_116027.2:n.1017+511_1017+513del