Canonical Allele Identifier: CA83376422

Gene: GATA2

Linked Data

• dbSNP Id: rs560546629
• gnomAD v2: 3-128200419-C-G
• gnomAD v3: 3-128481576-C-G
• gnomAD v4: 3-128481576-C-G
• MyVariant Identifiers: chr3:g.128200419C>G (hg19) ; chr3:g.128481576C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481576C>G , CM000665.2:g.128481576C>G	GRCh38
NC_000003.11:g.128200419C>G , CM000665.1:g.128200419C>G	GRCh37
NC_000003.10:g.129683109C>G	NCBI36
NG_029334.1:g.16612G>C , LRG_295:g.16612G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1143+243G>C MANE Plus Clinical	ENSP00000417074.1:n.1143+243G>C
ENST00000696466.1:c.1425+243G>C	ENSP00000512647.1:n.1425+243G>C
ENST00000696672.1:c.126+243G>C	ENSP00000512796.1:n.126+243G>C
ENST00000341105.7:c.1143+243G>C MANE Select	ENSP00000345681.2:n.1143+243G>C
ENST00000341105.6:c.1143+243G>C	ENSP00000345681.2:n.1143+243G>C
ENST00000430265.6:c.1101+243G>C	ENSP00000400259.2:n.1101+243G>C
ENST00000487848.5:c.1143+243G>C	ENSP00000417074.1:n.1143+243G>C
ENST00000489987.1:n.260+243G>C
NM_001145661.1:c.1143+243G>C , LRG_295t1:c.1143+243G>C	NP_001139133.1:n.1143+243G>C
NM_001145662.1:c.1101+243G>C	NP_001139134.1:n.1101+243G>C
NM_032638.4:c.1143+243G>C , LRG_295t2:c.1143+243G>C	NP_116027.2:n.1143+243G>C
NM_001145661.2:c.1143+243G>C MANE Plus Clinical	NP_001139133.1:n.1143+243G>C
NM_032638.5:c.1143+243G>C MANE Select	NP_116027.2:n.1143+243G>C