Canonical Allele Identifier: CA2667540612
Gene: GATA2 HGNC NCBI

Linked Data

gnomAD v4: 3-128482092-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128482096del , CM000665.2:g.128482096del GRCh38
NC_000003.11:g.128200939del , CM000665.1:g.128200939del GRCh37
NC_000003.10:g.129683629del NCBI36
NG_029334.1:g.16095del , LRG_295:g.16095del

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.1018-149del MANE Plus Clinical ENSP00000417074.1:n.1018-149del
ENST00000696466.1:c.1300-149del ENSP00000512647.1:n.1300-149del
ENST00000341105.7:c.1018-149del MANE Select ENSP00000345681.2:n.1018-149del
ENST00000341105.6:c.1018-149del ENSP00000345681.2:n.1018-149del
ENST00000430265.6:c.1018-191del ENSP00000400259.2:n.1018-191del
ENST00000487848.5:c.1018-149del ENSP00000417074.1:n.1018-149del
NM_001145661.1:c.1018-149del , LRG_295t1:c.1018-149del NP_001139133.1:n.1018-149del
NM_001145662.1:c.1018-191del NP_001139134.1:n.1018-191del
NM_032638.4:c.1018-149del , LRG_295t2:c.1018-149del NP_116027.2:n.1018-149del
NM_001145661.2:c.1018-149del MANE Plus Clinical NP_001139133.1:n.1018-149del
NM_032638.5:c.1018-149del MANE Select NP_116027.2:n.1018-149del
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