Canonical Allele Identifier: CA2599796

Gene: GATA2

Linked Data

• dbSNP Id: rs747150675
• ExAC: 3:128199965 C / A
• gnomAD v4: 3-128481122-C-A
• MyVariant Identifiers: chr3:g.128199965C>A (hg19) ; chr3:g.128481122C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481122C>A , CM000665.2:g.128481122C>A	GRCh38
NC_000003.11:g.128199965C>A , CM000665.1:g.128199965C>A	GRCh37
NC_000003.10:g.129682655C>A	NCBI36
NG_029334.1:g.17066G>T , LRG_295:g.17066G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1340G>T MANE Plus Clinical	ENSP00000417074.1:p.Ser447Ile
ENST00000696466.1:c.1622G>T	ENSP00000512647.1:p.Ser541Ile
ENST00000696672.1:c.315G>T	ENSP00000512796.1:p.Gln105His
ENST00000341105.7:c.1340G>T MANE Select	ENSP00000345681.2:p.Ser447Ile
ENST00000341105.6:c.1340G>T	ENSP00000345681.2:p.Ser447Ile
ENST00000430265.6:c.1298G>T	ENSP00000400259.2:p.Ser433Ile
ENST00000487848.5:c.1340G>T	ENSP00000417074.1:p.Ser447Ile
ENST00000489987.1:n.457G>T
NM_001145661.1:c.1340G>T , LRG_295t1:c.1340G>T	NP_001139133.1:p.Ser447Ile
NM_001145662.1:c.1298G>T	NP_001139134.1:p.Ser433Ile
NM_032638.4:c.1340G>T , LRG_295t2:c.1340G>T	NP_116027.2:p.Ser447Ile
NM_001145661.2:c.1340G>T MANE Plus Clinical	NP_001139133.1:p.Ser447Ile
NM_032638.5:c.1340G>T MANE Select	NP_116027.2:p.Ser447Ile