Canonical Allele Identifier: CA354413345

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481299A>G , CM000665.2:g.128481299A>G	GRCh38
NC_000003.11:g.128200142A>G , CM000665.1:g.128200142A>G	GRCh37
NC_000003.10:g.129682832A>G	NCBI36
NG_029334.1:g.16889T>C , LRG_295:g.16889T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032638.5:c.1163T>C MANE Select	NP_116027.2:p.Met388Thr
ENST00000341105.7:c.1163T>C MANE Select	ENSP00000345681.2:p.Met388Thr
NM_001145661.2:c.1163T>C MANE Plus Clinical	NP_001139133.1:p.Met388Thr
ENST00000487848.6:c.1163T>C MANE Plus Clinical	ENSP00000417074.1:p.Met388Thr
NM_001145661.1:c.1163T>C , LRG_295t1:c.1163T>C	NP_001139133.1:p.Met388Thr
NM_001145662.1:c.1121T>C	NP_001139134.1:p.Met374Thr
NM_032638.4:c.1163T>C , LRG_295t2:c.1163T>C	NP_116027.2:p.Met388Thr
ENST00000341105.6:c.1163T>C	ENSP00000345681.2:p.Met388Thr
ENST00000430265.6:c.1121T>C	ENSP00000400259.2:p.Met374Thr
ENST00000487848.5:c.1163T>C	ENSP00000417074.1:p.Met388Thr
ENST00000489987.1:n.280T>C
ENST00000696466.1:c.1445T>C	ENSP00000512647.1:p.Met482Thr
ENST00000696672.1:c.138T>C	ENSP00000512796.1:p.His46=