Canonical Allele Identifier: CA1400716852
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483368_128483369delinsAT , CM000665.2:g.128483368_128483369delinsAT GRCh38
NC_000003.11:g.128202211_128202212delinsAT , CM000665.1:g.128202211_128202212delinsAT GRCh37
NC_000003.10:g.129684901_129684902delinsAT NCBI36
NG_029334.1:g.14819_14820delinsAT , LRG_295:g.14819_14820delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1017+491_1017+492delinsAT MANE Plus Clinical ENSP00000417074.1:n.1017+491_1017+492delinsAT
ENST00000696466.1:c.1299+491_1299+492delinsAT ENSP00000512647.1:n.1299+491_1299+492delinsAT
ENST00000341105.7:c.1017+491_1017+492delinsAT MANE Select ENSP00000345681.2:n.1017+491_1017+492delinsAT
ENST00000341105.6:c.1017+491_1017+492delinsAT ENSP00000345681.2:n.1017+491_1017+492delinsAT
ENST00000430265.6:c.1017+491_1017+492delinsAT ENSP00000400259.2:n.1017+491_1017+492delinsAT
ENST00000487848.5:c.1017+491_1017+492delinsAT ENSP00000417074.1:n.1017+491_1017+492delinsAT
NM_001145661.1:c.1017+491_1017+492delinsAT , LRG_295t1:c.1017+491_1017+492delinsAT NP_001139133.1:n.1017+491_1017+492delinsAT
NM_001145662.1:c.1017+491_1017+492delinsAT NP_001139134.1:n.1017+491_1017+492delinsAT
NM_032638.4:c.1017+491_1017+492delinsAT , LRG_295t2:c.1017+491_1017+492delinsAT NP_116027.2:n.1017+491_1017+492delinsAT
NM_001145661.2:c.1017+491_1017+492delinsAT MANE Plus Clinical NP_001139133.1:n.1017+491_1017+492delinsAT
NM_032638.5:c.1017+491_1017+492delinsAT MANE Select NP_116027.2:n.1017+491_1017+492delinsAT