Canonical Allele Identifier: CA2667540380

Gene: GATA2

Linked Data

• gnomAD v4: 3-128481671-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481671T>C , CM000665.2:g.128481671T>C	GRCh38
NC_000003.11:g.128200514T>C , CM000665.1:g.128200514T>C	GRCh37
NC_000003.10:g.129683204T>C	NCBI36
NG_029334.1:g.16517A>G , LRG_295:g.16517A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1143+148A>G MANE Plus Clinical	ENSP00000417074.1:n.1143+148A>G
ENST00000696466.1:c.1425+148A>G	ENSP00000512647.1:n.1425+148A>G
ENST00000696672.1:c.126+148A>G	ENSP00000512796.1:n.126+148A>G
ENST00000341105.7:c.1143+148A>G MANE Select	ENSP00000345681.2:n.1143+148A>G
ENST00000341105.6:c.1143+148A>G	ENSP00000345681.2:n.1143+148A>G
ENST00000430265.6:c.1101+148A>G	ENSP00000400259.2:n.1101+148A>G
ENST00000487848.5:c.1143+148A>G	ENSP00000417074.1:n.1143+148A>G
ENST00000489987.1:n.260+148A>G
NM_001145661.1:c.1143+148A>G , LRG_295t1:c.1143+148A>G	NP_001139133.1:n.1143+148A>G
NM_001145662.1:c.1101+148A>G	NP_001139134.1:n.1101+148A>G
NM_032638.4:c.1143+148A>G , LRG_295t2:c.1143+148A>G	NP_116027.2:n.1143+148A>G
NM_001145661.2:c.1143+148A>G MANE Plus Clinical	NP_001139133.1:n.1143+148A>G
NM_032638.5:c.1143+148A>G MANE Select	NP_116027.2:n.1143+148A>G