Canonical Allele Identifier: CA83375952

Gene: GATA2

Linked Data

• dbSNP Id: rs576307270
• gnomAD v2: 3-128199176-C-T
• gnomAD v3: 3-128480333-C-T
• gnomAD v4: 3-128480333-C-T
• MyVariant Identifiers: chr3:g.128199176C>T (hg19) ; chr3:g.128480333C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480333C>T , CM000665.2:g.128480333C>T	GRCh38
NC_000003.11:g.128199176C>T , CM000665.1:g.128199176C>T	GRCh37
NC_000003.10:g.129681866C>T	NCBI36
NG_029334.1:g.17855G>A , LRG_295:g.17855G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.*686G>A MANE Plus Clinical	ENSP00000417074.1:n.*686G>A
ENST00000696466.1:c.*686G>A	ENSP00000512647.1:n.*686G>A
ENST00000696672.1:c.1104G>A	ENSP00000512796.1:n.1104G>A
ENST00000341105.7:c.*686G>A MANE Select	ENSP00000345681.2:n.*686G>A
ENST00000341105.6:c.*686G>A	ENSP00000345681.2:n.*686G>A
ENST00000430265.6:c.*686G>A	ENSP00000400259.2:n.*686G>A
ENST00000489987.1:n.1246G>A
NM_001145661.1:c.*686G>A , LRG_295t1:c.*686G>A	NP_001139133.1:n.*686G>A
NM_001145662.1:c.*686G>A	NP_001139134.1:n.*686G>A
NM_032638.4:c.*686G>A , LRG_295t2:c.*686G>A	NP_116027.2:n.*686G>A
NM_001145661.2:c.*686G>A MANE Plus Clinical	NP_001139133.1:n.*686G>A
NM_032638.5:c.*686G>A MANE Select	NP_116027.2:n.*686G>A