Canonical Allele Identifier: CA1400713626

Gene: GATA2

Linked Data

• dbSNP Id: rs190007569
• gnomAD v4: 3-128480996-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480996G>T , CM000665.2:g.128480996G>T	GRCh38
NC_000003.11:g.128199839G>T , CM000665.1:g.128199839G>T	GRCh37
NC_000003.10:g.129682529G>T	NCBI36
NG_029334.1:g.17192C>A , LRG_295:g.17192C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*23C>A MANE Plus Clinical	ENSP00000417074.1:n.*23C>A
ENST00000696466.1:c.*23C>A	ENSP00000512647.1:n.*23C>A
ENST00000696672.1:c.441C>A	ENSP00000512796.1:p.Thr147=
ENST00000341105.7:c.*23C>A MANE Select	ENSP00000345681.2:n.*23C>A
ENST00000341105.6:c.*23C>A	ENSP00000345681.2:n.*23C>A
ENST00000430265.6:c.*23C>A	ENSP00000400259.2:n.*23C>A
ENST00000489987.1:n.583C>A
NM_001145661.1:c.*23C>A , LRG_295t1:c.*23C>A	NP_001139133.1:n.*23C>A
NM_001145662.1:c.*23C>A	NP_001139134.1:n.*23C>A
NM_032638.4:c.*23C>A , LRG_295t2:c.*23C>A	NP_116027.2:n.*23C>A
NM_001145661.2:c.*23C>A MANE Plus Clinical	NP_001139133.1:n.*23C>A
NM_032638.5:c.*23C>A MANE Select	NP_116027.2:n.*23C>A