Canonical Allele Identifier: CA1400717224
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483763G= , CM000665.2:g.128483763G= GRCh38
NC_000003.11:g.128202606G= , CM000665.1:g.128202606G= GRCh37
NC_000003.10:g.129685296G= NCBI36
NG_029334.1:g.14425C= , LRG_295:g.14425C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1017+97C= MANE Plus Clinical ENSP00000417074.1:n.1017+97C=
ENST00000696466.1:c.1299+97C= ENSP00000512647.1:n.1299+97C=
ENST00000341105.7:c.1017+97C= MANE Select ENSP00000345681.2:n.1017+97C=
ENST00000341105.6:c.1017+97C= ENSP00000345681.2:n.1017+97C=
ENST00000430265.6:c.1017+97C= ENSP00000400259.2:n.1017+97C=
ENST00000487848.5:c.1017+97C= ENSP00000417074.1:n.1017+97C=
NM_001145661.1:c.1017+97C= , LRG_295t1:c.1017+97C= NP_001139133.1:n.1017+97C=
NM_001145662.1:c.1017+97C= NP_001139134.1:n.1017+97C=
NM_032638.4:c.1017+97C= , LRG_295t2:c.1017+97C= NP_116027.2:n.1017+97C=
NM_001145661.2:c.1017+97C= MANE Plus Clinical NP_001139133.1:n.1017+97C=
NM_032638.5:c.1017+97C= MANE Select NP_116027.2:n.1017+97C=