Linked Data
dbSNP Id:
rs965136241
gnomAD v2:
22-19928980-G-A
gnomAD v3:
22-19941457-G-A
gnomAD v4:
22-19941457-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19941457G>A , CM000684.2:g.19941457G>A | GRCh38 |
| NC_000022.10:g.19928980G>A , CM000684.1:g.19928980G>A | GRCh37 |
| NC_000022.9:g.18308980G>A | NCBI36 |
| NG_011526.1:g.4718G>A | |
| NG_011835.1:g.5380C>T , LRG_417:g.5380C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400521.7:c.103+244C>T (TXNRD2) MANE Select | ENSP00000383365.1:n.103+244C>T | |
| ENST00000676678.1:c.-210G>A (COMT) | ENSP00000503719.1:n.-210G>A | |
| ENST00000334363.14:c.103+244C>T (TXNRD2) | ENSP00000334451.9:n.103+244C>T | |
| ENST00000400519.6:c.103+244C>T (TXNRD2) | ENSP00000383363.1:n.103+244C>T | |
| ENST00000400521.6:c.103+244C>T (TXNRD2) | ENSP00000383365.1:n.103+244C>T | |
| ENST00000400525.6:c.103+244C>T (TXNRD2) | ENSP00000383369.3:n.103+244C>T | |
| ENST00000474308.5:c.103+244C>T (TXNRD2) | ENSP00000485665.1:n.103+244C>T | |
| ENST00000496729.2:n.108+244C>T (TXNRD2) | ||
| NM_001282512.1:c.103+244C>T (TXNRD2) | NP_001269441.1:n.103+244C>T | |
| NM_006440.4:c.103+244C>T (TXNRD2) | NP_006431.2:n.103+244C>T | |
| NM_001282512.2:c.103+244C>T (TXNRD2) | NP_001269441.1:n.103+244C>T | |
| NM_001352300.1:c.103+244C>T (TXNRD2) | NP_001339229.1:n.103+244C>T | |
| NR_147957.1:n.292+244C>T (TXNRD2) | ||
| NM_006440.5:c.103+244C>T (TXNRD2) MANE Select | NP_006431.2:n.103+244C>T | |
| NM_001282512.3:c.103+244C>T (TXNRD2) | NP_001269441.1:n.103+244C>T | |
| NM_001352300.2:c.103+244C>T (TXNRD2) | NP_001339229.1:n.103+244C>T | |
| NR_147957.2:n.118+244C>T (TXNRD2) |