Canonical Allele Identifier: CA1400715577

Gene: GATA2

Linked Data

• dbSNP Id: rs2068637918
• gnomAD v4: 3-128482063-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128482063T>C , CM000665.2:g.128482063T>C	GRCh38
NC_000003.11:g.128200906T>C , CM000665.1:g.128200906T>C	GRCh37
NC_000003.10:g.129683596T>C	NCBI36
NG_029334.1:g.16125A>G , LRG_295:g.16125A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1018-119A>G MANE Plus Clinical	ENSP00000417074.1:n.1018-119A>G
ENST00000696466.1:c.1300-119A>G	ENSP00000512647.1:n.1300-119A>G
ENST00000341105.7:c.1018-119A>G MANE Select	ENSP00000345681.2:n.1018-119A>G
ENST00000341105.6:c.1018-119A>G	ENSP00000345681.2:n.1018-119A>G
ENST00000430265.6:c.1018-161A>G	ENSP00000400259.2:n.1018-161A>G
ENST00000487848.5:c.1018-119A>G	ENSP00000417074.1:n.1018-119A>G
ENST00000489987.1:n.16A>G
NM_001145661.1:c.1018-119A>G , LRG_295t1:c.1018-119A>G	NP_001139133.1:n.1018-119A>G
NM_001145662.1:c.1018-161A>G	NP_001139134.1:n.1018-161A>G
NM_032638.4:c.1018-119A>G , LRG_295t2:c.1018-119A>G	NP_116027.2:n.1018-119A>G
NM_001145661.2:c.1018-119A>G MANE Plus Clinical	NP_001139133.1:n.1018-119A>G
NM_032638.5:c.1018-119A>G MANE Select	NP_116027.2:n.1018-119A>G