Canonical Allele Identifier: CA2600046
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 241722
dbSNP Id: rs142993548

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128486319C>T , CM000665.2:g.128486319C>T GRCh38
NC_000003.11:g.128205162C>T , CM000665.1:g.128205162C>T GRCh37
NC_000003.10:g.129687852C>T NCBI36
NG_029334.1:g.11869G>A , LRG_295:g.11869G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.279G>A MANE Plus Clinical ENSP00000417074.1:p.Pro93=
ENST00000696466.1:c.561G>A ENSP00000512647.1:p.Pro187=
ENST00000341105.7:c.279G>A MANE Select ENSP00000345681.2:p.Pro93=
ENST00000341105.6:c.279G>A ENSP00000345681.2:p.Pro93=
ENST00000430265.6:c.279G>A ENSP00000400259.2:p.Pro93=
ENST00000487848.5:c.279G>A ENSP00000417074.1:p.Pro93=
ENST00000492608.1:c.279G>A ENSP00000418132.1:p.Pro93=
NM_001145661.1:c.279G>A , LRG_295t1:c.279G>A NP_001139133.1:p.Pro93=
NM_001145662.1:c.279G>A NP_001139134.1:p.Pro93=
NM_032638.4:c.279G>A , LRG_295t2:c.279G>A NP_116027.2:p.Pro93=
NM_001145661.2:c.279G>A MANE Plus Clinical NP_001139133.1:p.Pro93=
NM_032638.5:c.279G>A MANE Select NP_116027.2:p.Pro93=