Canonical Allele Identifier: CA1400713418

Gene: GATA2

Linked Data

• dbSNP Id: rs1576743790
• gnomAD v4: 3-128480808-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480808A>C , CM000665.2:g.128480808A>C	GRCh38
NC_000003.11:g.128199651A>C , CM000665.1:g.128199651A>C	GRCh37
NC_000003.10:g.129682341A>C	NCBI36
NG_029334.1:g.17380T>G , LRG_295:g.17380T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*211T>G MANE Plus Clinical	ENSP00000417074.1:n.*211T>G
ENST00000696466.1:c.*211T>G	ENSP00000512647.1:n.*211T>G
ENST00000696672.1:c.629T>G	ENSP00000512796.1:n.629T>G
ENST00000341105.7:c.*211T>G MANE Select	ENSP00000345681.2:n.*211T>G
ENST00000341105.6:c.*211T>G	ENSP00000345681.2:n.*211T>G
ENST00000430265.6:c.*211T>G	ENSP00000400259.2:n.*211T>G
ENST00000489987.1:n.771T>G
NM_001145661.1:c.*211T>G , LRG_295t1:c.*211T>G	NP_001139133.1:n.*211T>G
NM_001145662.1:c.*211T>G	NP_001139134.1:n.*211T>G
NM_032638.4:c.*211T>G , LRG_295t2:c.*211T>G	NP_116027.2:n.*211T>G
NM_001145661.2:c.*211T>G MANE Plus Clinical	NP_001139133.1:n.*211T>G
NM_032638.5:c.*211T>G MANE Select	NP_116027.2:n.*211T>G