Canonical Allele Identifier: CA2758339145
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483345_128483346insACTA , CM000665.2:g.128483345_128483346insACTA GRCh38
NC_000003.11:g.128202188_128202189insACTA , CM000665.1:g.128202188_128202189insACTA GRCh37
NC_000003.10:g.129684878_129684879insACTA NCBI36
NG_029334.1:g.14842_14843insTAGT , LRG_295:g.14842_14843insTAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1017+514_1017+515insTAGT MANE Plus Clinical ENSP00000417074.1:n.1017+514_1017+515insTAGT
ENST00000696466.1:c.1299+514_1299+515insTAGT ENSP00000512647.1:n.1299+514_1299+515insTAGT
ENST00000341105.7:c.1017+514_1017+515insTAGT MANE Select ENSP00000345681.2:n.1017+514_1017+515insTAGT
ENST00000341105.6:c.1017+514_1017+515insTAGT ENSP00000345681.2:n.1017+514_1017+515insTAGT
ENST00000430265.6:c.1017+514_1017+515insTAGT ENSP00000400259.2:n.1017+514_1017+515insTAGT
ENST00000487848.5:c.1017+514_1017+515insTAGT ENSP00000417074.1:n.1017+514_1017+515insTAGT
NM_001145661.1:c.1017+514_1017+515insTAGT , LRG_295t1:c.1017+514_1017+515insTAGT NP_001139133.1:n.1017+514_1017+515insTAGT
NM_001145662.1:c.1017+514_1017+515insTAGT NP_001139134.1:n.1017+514_1017+515insTAGT
NM_032638.4:c.1017+514_1017+515insTAGT , LRG_295t2:c.1017+514_1017+515insTAGT NP_116027.2:n.1017+514_1017+515insTAGT
NM_001145661.2:c.1017+514_1017+515insTAGT MANE Plus Clinical NP_001139133.1:n.1017+514_1017+515insTAGT
NM_032638.5:c.1017+514_1017+515insTAGT MANE Select NP_116027.2:n.1017+514_1017+515insTAGT