Linked Data
dbSNP Id:
rs995427038
gnomAD v4:
2-201623171-C-A
MyVariant Identifiers:
chr2:g.202487894C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201623171C>A , CM000664.2:g.201623171C>A | GRCh38 |
| NC_000002.11:g.202487894C>A , CM000664.1:g.202487894C>A | GRCh37 |
| NC_000002.10:g.202196139C>A | NCBI36 |
| NG_032049.1:g.25359G>T | |
| NG_051007.1:g.1012G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621467.5:c.*1084G>T (TMEM237) | ENSP00000480508.2:n.*1084G>T | |
| ENST00000686475.1:n.2251G>T (TMEM237) | ||
| ENST00000409883.7:c.*1084G>T (TMEM237) MANE Select | ENSP00000386264.2:n.*1084G>T | |
| ENST00000409444.6:c.*1084G>T (TMEM237) | ENSP00000387203.2:n.*1084G>T | |
| ENST00000409883.6:c.*1084G>T (TMEM237) | ENSP00000386264.2:n.*1084G>T | |
| ENST00000416471.2:n.260G>T (ENO1P4) | ||
| ENST00000495329.1:n.1450G>T (TMEM237) | ||
| NM_001044385.2:c.*1084G>T (TMEM237) | NP_001037850.1:n.*1084G>T | |
| NM_152388.3:c.*1084G>T (TMEM237) | NP_689601.2:n.*1084G>T | |
| NM_001044385.3:c.*1084G>T (TMEM237) MANE Select | NP_001037850.1:n.*1084G>T | |
| NM_152388.4:c.*1084G>T (TMEM237) | NP_689601.2:n.*1084G>T |