Canonical Allele Identifier: CA1400712398

Gene: GATA2

Linked Data

• dbSNP Id: rs2068601233
• gnomAD v4: 3-128479812-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128479812T>C , CM000665.2:g.128479812T>C	GRCh38
NC_000003.11:g.128198655T>C , CM000665.1:g.128198655T>C	GRCh37
NC_000003.10:g.129681345T>C	NCBI36
NG_029334.1:g.18376A>G , LRG_295:g.18376A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.*1207A>G MANE Plus Clinical	ENSP00000417074.1:n.*1207A>G
ENST00000696466.1:c.*1207A>G	ENSP00000512647.1:n.*1207A>G
ENST00000696672.1:c.1625A>G	ENSP00000512796.1:n.1625A>G
ENST00000341105.7:c.*1207A>G MANE Select	ENSP00000345681.2:n.*1207A>G
ENST00000341105.6:c.*1207A>G	ENSP00000345681.2:n.*1207A>G
NM_001145661.1:c.*1207A>G , LRG_295t1:c.*1207A>G	NP_001139133.1:n.*1207A>G
NM_001145662.1:c.*1207A>G	NP_001139134.1:n.*1207A>G
NM_032638.4:c.*1207A>G , LRG_295t2:c.*1207A>G	NP_116027.2:n.*1207A>G
NM_001145661.2:c.*1207A>G MANE Plus Clinical	NP_001139133.1:n.*1207A>G
NM_032638.5:c.*1207A>G MANE Select	NP_116027.2:n.*1207A>G