Canonical Allele Identifier: CA898648946
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1184023
dbSNP Id: rs1255750954

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483167dup , CM000665.2:g.128483167dup GRCh38
NC_000003.11:g.128202010dup , CM000665.1:g.128202010dup GRCh37
NC_000003.10:g.129684700dup NCBI36
NG_029334.1:g.15026dup , LRG_295:g.15026dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1017+698dup MANE Plus Clinical ENSP00000417074.1:n.1017+698dup
ENST00000696466.1:c.1299+698dup ENSP00000512647.1:n.1299+698dup
ENST00000341105.7:c.1017+698dup MANE Select ENSP00000345681.2:n.1017+698dup
ENST00000341105.6:c.1017+698dup ENSP00000345681.2:n.1017+698dup
ENST00000430265.6:c.1017+698dup ENSP00000400259.2:n.1017+698dup
ENST00000487848.5:c.1017+698dup ENSP00000417074.1:n.1017+698dup
NM_001145661.1:c.1017+698dup , LRG_295t1:c.1017+698dup NP_001139133.1:n.1017+698dup
NM_001145662.1:c.1017+698dup NP_001139134.1:n.1017+698dup
NM_032638.4:c.1017+698dup , LRG_295t2:c.1017+698dup NP_116027.2:n.1017+698dup
NM_001145661.2:c.1017+698dup MANE Plus Clinical NP_001139133.1:n.1017+698dup
NM_032638.5:c.1017+698dup MANE Select NP_116027.2:n.1017+698dup