Canonical Allele Identifier: CA645529122

Gene: GATA2

Linked Data

• COSMIC: COSM4564733

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481064_128481065delinsAA , CM000665.2:g.128481064_128481065delinsAA	GRCh38
NC_000003.11:g.128199907_128199908delinsAA , CM000665.1:g.128199907_128199908delinsAA	GRCh37
NC_000003.10:g.129682597_129682598delinsAA	NCBI36
NG_029334.1:g.17123_17124delinsTT , LRG_295:g.17123_17124delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1397_1398delinsTT MANE Plus Clinical	ENSP00000417074.1:p.Ser466Phe
ENST00000696466.1:c.1679_1680delinsTT	ENSP00000512647.1:p.Ser560Phe
ENST00000696672.1:c.372_373delinsTT	ENSP00000512796.1:p.Leu125Phe
ENST00000341105.7:c.1397_1398delinsTT MANE Select	ENSP00000345681.2:p.Ser466Phe
ENST00000341105.6:c.1397_1398delinsTT	ENSP00000345681.2:p.Ser466Phe
ENST00000430265.6:c.1355_1356delinsTT	ENSP00000400259.2:p.Ser452Phe
ENST00000487848.5:c.1397_1398delinsTT	ENSP00000417074.1:p.Ser466Phe
ENST00000489987.1:n.514_515delinsTT
NM_001145661.1:c.1397_1398delinsTT , LRG_295t1:c.1397_1398delinsTT	NP_001139133.1:p.Ser466Phe
NM_001145662.1:c.1355_1356delinsTT	NP_001139134.1:p.Ser452Phe
NM_032638.4:c.1397_1398delinsTT , LRG_295t2:c.1397_1398delinsTT	NP_116027.2:p.Ser466Phe
NM_001145661.2:c.1397_1398delinsTT MANE Plus Clinical	NP_001139133.1:p.Ser466Phe
NM_032638.5:c.1397_1398delinsTT MANE Select	NP_116027.2:p.Ser466Phe