Canonical Allele Identifier: CA354404558

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184145
• ClinVar RCV Id: RCV001542103
• dbSNP Id: rs2107670416
• MyVariant Identifiers: chr3:g.128202776A>G (hg19) ; chr3:g.128483933A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483933A>G , CM000665.2:g.128483933A>G	GRCh38
NC_000003.11:g.128202776A>G , CM000665.1:g.128202776A>G	GRCh37
NC_000003.10:g.129685466A>G	NCBI36
NG_029334.1:g.14255T>C , LRG_295:g.14255T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.944T>C MANE Plus Clinical	ENSP00000417074.1:p.Leu315Pro
ENST00000696466.1:c.1226T>C	ENSP00000512647.1:p.Leu409Pro
ENST00000341105.7:c.944T>C MANE Select	ENSP00000345681.2:p.Leu315Pro
ENST00000341105.6:c.944T>C	ENSP00000345681.2:p.Leu315Pro
ENST00000430265.6:c.944T>C	ENSP00000400259.2:p.Leu315Pro
ENST00000487848.5:c.944T>C	ENSP00000417074.1:p.Leu315Pro
NM_001145661.1:c.944T>C , LRG_295t1:c.944T>C	NP_001139133.1:p.Leu315Pro
NM_001145662.1:c.944T>C	NP_001139134.1:p.Leu315Pro
NM_032638.4:c.944T>C , LRG_295t2:c.944T>C	NP_116027.2:p.Leu315Pro
NM_001145661.2:c.944T>C MANE Plus Clinical	NP_001139133.1:p.Leu315Pro
NM_032638.5:c.944T>C MANE Select	NP_116027.2:p.Leu315Pro