Canonical Allele Identifier: CA435510018
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1117835
ClinVar RCV Id: RCV001446744
dbSNP Id: rs2107670469
MyVariant Identifiers: chr3:g.128202805G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483962G>C , CM000665.2:g.128483962G>C GRCh38
NC_000003.11:g.128202805G>C , CM000665.1:g.128202805G>C GRCh37
NC_000003.10:g.129685495G>C NCBI36
NG_029334.1:g.14226C>G , LRG_295:g.14226C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.915C>G MANE Plus Clinical ENSP00000417074.1:p.Leu305=
ENST00000696466.1:c.1197C>G ENSP00000512647.1:p.Leu399=
ENST00000341105.7:c.915C>G MANE Select ENSP00000345681.2:p.Leu305=
ENST00000341105.6:c.915C>G ENSP00000345681.2:p.Leu305=
ENST00000430265.6:c.915C>G ENSP00000400259.2:p.Leu305=
ENST00000487848.5:c.915C>G ENSP00000417074.1:p.Leu305=
NM_001145661.1:c.915C>G , LRG_295t1:c.915C>G NP_001139133.1:p.Leu305=
NM_001145662.1:c.915C>G NP_001139134.1:p.Leu305=
NM_032638.4:c.915C>G , LRG_295t2:c.915C>G NP_116027.2:p.Leu305=
NM_001145661.2:c.915C>G MANE Plus Clinical NP_001139133.1:p.Leu305=
NM_032638.5:c.915C>G MANE Select NP_116027.2:p.Leu305=