Canonical Allele Identifier: CA1400715795
Gene: GATA2 HGNC NCBI

Linked Data

dbSNP Id: rs1576745630

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128482280G>C , CM000665.2:g.128482280G>C GRCh38
NC_000003.11:g.128201123G>C , CM000665.1:g.128201123G>C GRCh37
NC_000003.10:g.129683813G>C NCBI36
NG_029334.1:g.15908C>G , LRG_295:g.15908C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1018-336C>G MANE Plus Clinical ENSP00000417074.1:n.1018-336C>G
ENST00000696466.1:c.1300-336C>G ENSP00000512647.1:n.1300-336C>G
ENST00000341105.7:c.1018-336C>G MANE Select ENSP00000345681.2:n.1018-336C>G
ENST00000341105.6:c.1018-336C>G ENSP00000345681.2:n.1018-336C>G
ENST00000430265.6:c.1018-378C>G ENSP00000400259.2:n.1018-378C>G
ENST00000487848.5:c.1018-336C>G ENSP00000417074.1:n.1018-336C>G
NM_001145661.1:c.1018-336C>G , LRG_295t1:c.1018-336C>G NP_001139133.1:n.1018-336C>G
NM_001145662.1:c.1018-378C>G NP_001139134.1:n.1018-378C>G
NM_032638.4:c.1018-336C>G , LRG_295t2:c.1018-336C>G NP_116027.2:n.1018-336C>G
NM_001145661.2:c.1018-336C>G MANE Plus Clinical NP_001139133.1:n.1018-336C>G
NM_032638.5:c.1018-336C>G MANE Select NP_116027.2:n.1018-336C>G