Linked Data
ClinVar Variation Id:
435279
ClinVar RCV Id:
RCV000501977
dbSNP Id:
rs915550032
gnomAD v2:
3-128211802-A-C
gnomAD v3:
3-128492959-A-C
gnomAD v4:
3-128492959-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128492959A>C , CM000665.2:g.128492959A>C | GRCh38 |
| NC_000003.11:g.128211802A>C , CM000665.1:g.128211802A>C | GRCh37 |
| NC_000003.10:g.129694492A>C | NCBI36 |
| NG_029334.1:g.5229T>G , LRG_295:g.5229T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696466.1:c.-254T>G (GATA2) | ENSP00000512647.1:n.-254T>G | |
| ENST00000696654.1:c.-659T>G (GATA2) | ENSP00000512783.1:n.-659T>G | |
| ENST00000696655.1:n.228T>G (GATA2) | ||
| ENST00000341105.7:c.-106T>G (GATA2) MANE Select | ENSP00000345681.2:n.-106T>G | |
| ENST00000341105.6:c.-106T>G (GATA2) | ENSP00000345681.2:n.-106T>G | |
| ENST00000498200.1:c.-325T>G (GATA2) | ENSP00000419532.1:n.-325T>G | |
| NM_032638.4:c.-106T>G , LRG_295t2:c.-106T>G (GATA2) | NP_116027.2:n.-106T>G | |
| NR_125398.1:n.759+2890A>C (GATA2-AS1) | ||
| NM_032638.5:c.-106T>G (GATA2) MANE Select | NP_116027.2:n.-106T>G |