Canonical Allele Identifier: CA10582131

Gene: GATA2

Linked Data

• ClinVar Variation Id: 241719
• ClinVar RCV Id: RCV001504901
• dbSNP Id: rs878855169
• gnomAD v4: 3-128481052-G-A
• MyVariant Identifiers: chr3:g.128199895G>A (hg19) ; chr3:g.128481052G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481052G>A , CM000665.2:g.128481052G>A	GRCh38
NC_000003.11:g.128199895G>A , CM000665.1:g.128199895G>A	GRCh37
NC_000003.10:g.129682585G>A	NCBI36
NG_029334.1:g.17136C>T , LRG_295:g.17136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1410C>T MANE Plus Clinical	ENSP00000417074.1:p.Pro470=
ENST00000696466.1:c.1692C>T	ENSP00000512647.1:p.Pro564=
ENST00000696672.1:c.385C>T	ENSP00000512796.1:p.Pro129Ser
ENST00000341105.7:c.1410C>T MANE Select	ENSP00000345681.2:p.Pro470=
ENST00000341105.6:c.1410C>T	ENSP00000345681.2:p.Pro470=
ENST00000430265.6:c.1368C>T	ENSP00000400259.2:p.Pro456=
ENST00000487848.5:c.1410C>T	ENSP00000417074.1:p.Pro470=
ENST00000489987.1:n.527C>T
NM_001145661.1:c.1410C>T , LRG_295t1:c.1410C>T	NP_001139133.1:p.Pro470=
NM_001145662.1:c.1368C>T	NP_001139134.1:p.Pro456=
NM_032638.4:c.1410C>T , LRG_295t2:c.1410C>T	NP_116027.2:p.Pro470=
NM_001145661.2:c.1410C>T MANE Plus Clinical	NP_001139133.1:p.Pro470=
NM_032638.5:c.1410C>T MANE Select	NP_116027.2:p.Pro470=