Canonical Allele Identifier: CA83375092
Gene: GATA2 HGNC NCBI
GATA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1030363651
MyVariant Identifiers: chr3:g.128492855G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128492855G>C , CM000665.2:g.128492855G>C GRCh38
NC_000003.11:g.128211698G>C , CM000665.1:g.128211698G>C GRCh37
NC_000003.10:g.129694388G>C NCBI36
NG_029334.1:g.5333C>G , LRG_295:g.5333C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696466.1:c.-194+44C>G (GATA2) ENSP00000512647.1:n.-194+44C>G
ENST00000696654.1:c.-599+44C>G (GATA2) ENSP00000512783.1:n.-599+44C>G
ENST00000696655.1:n.288+44C>G (GATA2)
ENST00000341105.7:c.-46+44C>G (GATA2) MANE Select ENSP00000345681.2:n.-46+44C>G
ENST00000341105.6:c.-46+44C>G (GATA2) ENSP00000345681.2:n.-46+44C>G
ENST00000498200.1:c.-265+44C>G (GATA2) ENSP00000419532.1:n.-265+44C>G
NM_032638.4:c.-46+44C>G , LRG_295t2:c.-46+44C>G (GATA2) NP_116027.2:n.-46+44C>G
NR_125398.1:n.759+2786G>C (GATA2-AS1)
NM_032638.5:c.-46+44C>G (GATA2) MANE Select NP_116027.2:n.-46+44C>G