Canonical Allele Identifier: CA2667539254
Gene: GATA2 HGNC NCBI

Linked Data

gnomAD v4: 3-128479942-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128479942C>T , CM000665.2:g.128479942C>T GRCh38
NC_000003.11:g.128198785C>T , CM000665.1:g.128198785C>T GRCh37
NC_000003.10:g.129681475C>T NCBI36
NG_029334.1:g.18246G>A , LRG_295:g.18246G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.*1077G>A MANE Plus Clinical ENSP00000417074.1:n.*1077G>A
ENST00000696466.1:c.*1077G>A ENSP00000512647.1:n.*1077G>A
ENST00000696672.1:c.1495G>A ENSP00000512796.1:n.1495G>A
ENST00000341105.7:c.*1077G>A MANE Select ENSP00000345681.2:n.*1077G>A
ENST00000341105.6:c.*1077G>A ENSP00000345681.2:n.*1077G>A
NM_001145661.1:c.*1077G>A , LRG_295t1:c.*1077G>A NP_001139133.1:n.*1077G>A
NM_001145662.1:c.*1077G>A NP_001139134.1:n.*1077G>A
NM_032638.4:c.*1077G>A , LRG_295t2:c.*1077G>A NP_116027.2:n.*1077G>A
NM_001145661.2:c.*1077G>A MANE Plus Clinical NP_001139133.1:n.*1077G>A
NM_032638.5:c.*1077G>A MANE Select NP_116027.2:n.*1077G>A
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