Canonical Allele Identifier: CA1053360755

Gene: GATA2

Linked Data

• dbSNP Id: rs2068615240
• gnomAD v3: 3-128480766-G-A
• gnomAD v4: 3-128480766-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480766G>A , CM000665.2:g.128480766G>A	GRCh38
NC_000003.11:g.128199609G>A , CM000665.1:g.128199609G>A	GRCh37
NC_000003.10:g.129682299G>A	NCBI36
NG_029334.1:g.17422C>T , LRG_295:g.17422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*253C>T MANE Plus Clinical	ENSP00000417074.1:n.*253C>T
ENST00000696466.1:c.*253C>T	ENSP00000512647.1:n.*253C>T
ENST00000696672.1:c.671C>T	ENSP00000512796.1:n.671C>T
ENST00000341105.7:c.*253C>T MANE Select	ENSP00000345681.2:n.*253C>T
ENST00000341105.6:c.*253C>T	ENSP00000345681.2:n.*253C>T
ENST00000430265.6:c.*253C>T	ENSP00000400259.2:n.*253C>T
ENST00000489987.1:n.813C>T
NM_001145661.1:c.*253C>T , LRG_295t1:c.*253C>T	NP_001139133.1:n.*253C>T
NM_001145662.1:c.*253C>T	NP_001139134.1:n.*253C>T
NM_032638.4:c.*253C>T , LRG_295t2:c.*253C>T	NP_116027.2:n.*253C>T
NM_001145661.2:c.*253C>T MANE Plus Clinical	NP_001139133.1:n.*253C>T
NM_032638.5:c.*253C>T MANE Select	NP_116027.2:n.*253C>T