Linked Data
dbSNP Id:
rs1257747122
gnomAD v2:
3-128211764-G-C
gnomAD v3:
3-128492921-G-C
gnomAD v4:
3-128492921-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128492921G>C , CM000665.2:g.128492921G>C | GRCh38 |
| NC_000003.11:g.128211764G>C , CM000665.1:g.128211764G>C | GRCh37 |
| NC_000003.10:g.129694454G>C | NCBI36 |
| NG_029334.1:g.5267C>G , LRG_295:g.5267C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696466.1:c.-216C>G (GATA2) | ENSP00000512647.1:n.-216C>G | |
| ENST00000696654.1:c.-621C>G (GATA2) | ENSP00000512783.1:n.-621C>G | |
| ENST00000696655.1:n.266C>G (GATA2) | ||
| ENST00000341105.7:c.-68C>G (GATA2) MANE Select | ENSP00000345681.2:n.-68C>G | |
| ENST00000341105.6:c.-68C>G (GATA2) | ENSP00000345681.2:n.-68C>G | |
| ENST00000498200.1:c.-287C>G (GATA2) | ENSP00000419532.1:n.-287C>G | |
| NM_032638.4:c.-68C>G , LRG_295t2:c.-68C>G (GATA2) | NP_116027.2:n.-68C>G | |
| NR_125398.1:n.759+2852G>C (GATA2-AS1) | ||
| NM_032638.5:c.-68C>G (GATA2) MANE Select | NP_116027.2:n.-68C>G |