Linked Data
ClinVar Variation Id:
343146
ClinVar RCV Id:
RCV000358084
dbSNP Id:
rs886057935
gnomAD v2:
3-128211889-G-A
gnomAD v3:
3-128493046-G-A
gnomAD v4:
3-128493046-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128493046G>A , CM000665.2:g.128493046G>A | GRCh38 |
| NC_000003.11:g.128211889G>A , CM000665.1:g.128211889G>A | GRCh37 |
| NC_000003.10:g.129694579G>A | NCBI36 |
| NG_029334.1:g.5142C>T , LRG_295:g.5142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696466.1:c.-341C>T (GATA2) | ENSP00000512647.1:n.-341C>T | |
| ENST00000696654.1:c.-746C>T (GATA2) | ENSP00000512783.1:n.-746C>T | |
| ENST00000696655.1:n.141C>T (GATA2) | ||
| ENST00000341105.7:c.-193C>T (GATA2) MANE Select | ENSP00000345681.2:n.-193C>T | |
| ENST00000341105.6:c.-193C>T (GATA2) | ENSP00000345681.2:n.-193C>T | |
| ENST00000498200.1:c.-412C>T (GATA2) | ENSP00000419532.1:n.-412C>T | |
| NM_032638.4:c.-193C>T , LRG_295t2:c.-193C>T (GATA2) | NP_116027.2:n.-193C>T | |
| NR_125398.1:n.759+2977G>A (GATA2-AS1) | ||
| NM_032638.5:c.-193C>T (GATA2) MANE Select | NP_116027.2:n.-193C>T |