Canonical Allele Identifier: CA1400715695

Gene: GATA2

Linked Data

• dbSNP Id: rs1576745561
• gnomAD v4: 3-128482182-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128482182G>A , CM000665.2:g.128482182G>A	GRCh38
NC_000003.11:g.128201025G>A , CM000665.1:g.128201025G>A	GRCh37
NC_000003.10:g.129683715G>A	NCBI36
NG_029334.1:g.16006C>T , LRG_295:g.16006C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1018-238C>T MANE Plus Clinical	ENSP00000417074.1:n.1018-238C>T
ENST00000696466.1:c.1300-238C>T	ENSP00000512647.1:n.1300-238C>T
ENST00000341105.7:c.1018-238C>T MANE Select	ENSP00000345681.2:n.1018-238C>T
ENST00000341105.6:c.1018-238C>T	ENSP00000345681.2:n.1018-238C>T
ENST00000430265.6:c.1018-280C>T	ENSP00000400259.2:n.1018-280C>T
ENST00000487848.5:c.1018-238C>T	ENSP00000417074.1:n.1018-238C>T
NM_001145661.1:c.1018-238C>T , LRG_295t1:c.1018-238C>T	NP_001139133.1:n.1018-238C>T
NM_001145662.1:c.1018-280C>T	NP_001139134.1:n.1018-280C>T
NM_032638.4:c.1018-238C>T , LRG_295t2:c.1018-238C>T	NP_116027.2:n.1018-238C>T
NM_001145661.2:c.1018-238C>T MANE Plus Clinical	NP_001139133.1:n.1018-238C>T
NM_032638.5:c.1018-238C>T MANE Select	NP_116027.2:n.1018-238C>T