Canonical Allele Identifier: CA10582134
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 241714
dbSNP Id: rs371599112

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481927G>C , CM000665.2:g.128481927G>C GRCh38
NC_000003.11:g.128200770G>C , CM000665.1:g.128200770G>C GRCh37
NC_000003.10:g.129683460G>C NCBI36
NG_029334.1:g.16261C>G , LRG_295:g.16261C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000341105.7:c.1035C>G MANE Select ENSP00000345681.2:p.Ala345=
ENST00000341105.6:c.1035C>G ENSP00000345681.2:p.Ala345=
ENST00000430265.6:c.1018-25C>G ENSP00000400259.2:p.=
ENST00000487848.5:c.1035C>G ENSP00000417074.1:p.Ala345=
ENST00000489987.1:n.152C>G
NM_001145661.1:c.1035C>G , LRG_295t1:c.1035C>G NP_001139133.1:p.Ala345=
NM_001145662.1:c.1018-25C>G NP_001139134.1:p.=
NM_032638.4:c.1035C>G , LRG_295t2:c.1035C>G NP_116027.2:p.Ala345=
NM_001145661.2:c.1035C>G NP_001139133.1:p.Ala345=
NM_032638.5:c.1035C>G MANE Select NP_116027.2:p.Ala345=