Linked Data
dbSNP Id:
rs960901757
gnomAD v2:
3-128211487-C-A
gnomAD v3:
3-128492644-C-A
gnomAD v4:
3-128492644-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128492644C>A , CM000665.2:g.128492644C>A | GRCh38 |
| NC_000003.11:g.128211487C>A , CM000665.1:g.128211487C>A | GRCh37 |
| NC_000003.10:g.129694177C>A | NCBI36 |
| NG_029334.1:g.5544G>T , LRG_295:g.5544G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696466.1:c.-194+255G>T (GATA2) | ENSP00000512647.1:n.-194+255G>T | |
| ENST00000696654.1:c.-599+255G>T (GATA2) | ENSP00000512783.1:n.-599+255G>T | |
| ENST00000696655.1:n.288+255G>T (GATA2) | ||
| ENST00000341105.7:c.-46+255G>T (GATA2) MANE Select | ENSP00000345681.2:n.-46+255G>T | |
| ENST00000341105.6:c.-46+255G>T (GATA2) | ENSP00000345681.2:n.-46+255G>T | |
| ENST00000498200.1:c.-265+255G>T (GATA2) | ENSP00000419532.1:n.-265+255G>T | |
| NM_032638.4:c.-46+255G>T , LRG_295t2:c.-46+255G>T (GATA2) | NP_116027.2:n.-46+255G>T | |
| NR_125398.1:n.759+2575C>A (GATA2-AS1) | ||
| NM_032638.5:c.-46+255G>T (GATA2) MANE Select | NP_116027.2:n.-46+255G>T |