Canonical Allele Identifier: CA435524306
Gene: GATA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.128199907G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481064G>C , CM000665.2:g.128481064G>C GRCh38
NC_000003.11:g.128199907G>C , CM000665.1:g.128199907G>C GRCh37
NC_000003.10:g.129682597G>C NCBI36
NG_029334.1:g.17124C>G , LRG_295:g.17124C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1398C>G MANE Plus Clinical ENSP00000417074.1:p.Ser466=
ENST00000696466.1:c.1680C>G ENSP00000512647.1:p.Ser560=
ENST00000696672.1:c.373C>G ENSP00000512796.1:p.Leu125Val
ENST00000341105.7:c.1398C>G MANE Select ENSP00000345681.2:p.Ser466=
ENST00000341105.6:c.1398C>G ENSP00000345681.2:p.Ser466=
ENST00000430265.6:c.1356C>G ENSP00000400259.2:p.Ser452=
ENST00000487848.5:c.1398C>G ENSP00000417074.1:p.Ser466=
ENST00000489987.1:n.515C>G
NM_001145661.1:c.1398C>G , LRG_295t1:c.1398C>G NP_001139133.1:p.Ser466=
NM_001145662.1:c.1356C>G NP_001139134.1:p.Ser452=
NM_032638.4:c.1398C>G , LRG_295t2:c.1398C>G NP_116027.2:p.Ser466=
NM_001145661.2:c.1398C>G MANE Plus Clinical NP_001139133.1:p.Ser466=
NM_032638.5:c.1398C>G MANE Select NP_116027.2:p.Ser466=