Canonical Allele Identifier: CA435525182

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1560337
• ClinVar RCV Id: RCV002195595
• dbSNP Id: rs2107668116
• MyVariant Identifiers: chr3:g.128200147C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481304C>G , CM000665.2:g.128481304C>G	GRCh38
NC_000003.11:g.128200147C>G , CM000665.1:g.128200147C>G	GRCh37
NC_000003.10:g.129682837C>G	NCBI36
NG_029334.1:g.16884G>C , LRG_295:g.16884G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1158G>C MANE Plus Clinical	ENSP00000417074.1:p.Leu386=
ENST00000696466.1:c.1440G>C	ENSP00000512647.1:p.Leu480=
ENST00000696672.1:c.133G>C	ENSP00000512796.1:p.Asp45His
ENST00000341105.7:c.1158G>C MANE Select	ENSP00000345681.2:p.Leu386=
ENST00000341105.6:c.1158G>C	ENSP00000345681.2:p.Leu386=
ENST00000430265.6:c.1116G>C	ENSP00000400259.2:p.Leu372=
ENST00000487848.5:c.1158G>C	ENSP00000417074.1:p.Leu386=
ENST00000489987.1:n.275G>C
NM_001145661.1:c.1158G>C , LRG_295t1:c.1158G>C	NP_001139133.1:p.Leu386=
NM_001145662.1:c.1116G>C	NP_001139134.1:p.Leu372=
NM_032638.4:c.1158G>C , LRG_295t2:c.1158G>C	NP_116027.2:p.Leu386=
NM_001145661.2:c.1158G>C MANE Plus Clinical	NP_001139133.1:p.Leu386=
NM_032638.5:c.1158G>C MANE Select	NP_116027.2:p.Leu386=