Linked Data
dbSNP Id:
rs34354104
ExAC:
14:24707479 G / A
gnomAD v2:
14-24707479-G-A
gnomAD v3:
14-24238273-G-A
gnomAD v4:
14-24238273-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24238273G>A , CM000676.2:g.24238273G>A | GRCh38 |
| NC_000014.8:g.24707479G>A , CM000676.1:g.24707479G>A | GRCh37 |
| NC_000014.7:g.23777319G>A | NCBI36 |
| NG_016650.1:g.9402C>T | |
| NG_054634.1:g.10857G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399440.7:c.725G>A (GMPR2) MANE Select | ENSP00000382369.2:p.Gly242Asp | |
| ENST00000348719.11:c.728G>A (GMPR2) | ENSP00000334409.10:p.Gly243Asp | |
| ENST00000355299.8:c.725G>A (GMPR2) | ENSP00000347449.4:p.Gly242Asp | |
| ENST00000399440.6:c.725G>A (GMPR2) | ENSP00000382369.2:p.Gly242Asp | |
| ENST00000420554.6:c.779G>A (GMPR2) | ENSP00000392859.2:p.Gly260Asp | |
| ENST00000456667.7:c.641G>A (GMPR2) | ENSP00000405743.3:p.Gly214Asp | |
| ENST00000557854.5:c.779G>A (GMPR2) | ENSP00000454038.1:p.Gly260Asp | |
| ENST00000558007.1:n.86G>A (GMPR2) | ||
| ENST00000558483.5:c.305G>A (GMPR2) | ENSP00000453139.1:p.Gly102Asp | |
| ENST00000558748.1:c.28G>A (GMPR2) | ||
| ENST00000558865.5:c.263G>A (GMPR2) | ENSP00000454138.1:p.Gly88Asp | |
| ENST00000559104.5:c.680G>A (GMPR2) | ENSP00000453355.1:p.Gly227Asp | |
| ENST00000559287.5:c.*521G>A (GMPR2) | ENSP00000453594.1:n.*521G>A | |
| ENST00000559836.5:c.725G>A (GMPR2) | ENSP00000453299.1:p.Gly242Asp | |
| ENST00000559910.5:c.626G>A (GMPR2) | ENSP00000453537.1:p.Gly209Asp | |
| ENST00000559943.1:c.123-316G>A (GMPR2) | ||
| ENST00000561038.5:c.*647G>A (GMPR2) | ENSP00000452670.1:n.*647G>A | |
| ENST00000620807.4:c.725G>A (GMPR2) | ENSP00000480342.1:p.Gly242Asp | |
| NM_001002000.2:c.725G>A (GMPR2) | NP_001002000.1:p.Gly242Asp | |
| NM_001002001.2:c.725G>A (GMPR2) | NP_001002001.1:p.Gly242Asp | |
| NM_001002002.2:c.725G>A (GMPR2) | NP_001002002.1:p.Gly242Asp | |
| NM_001283021.1:c.617G>A (GMPR2) | NP_001269950.1:p.Gly206Asp | |
| NM_001283022.1:c.779G>A (GMPR2) | NP_001269951.1:p.Gly260Asp | |
| NM_001283023.1:c.641G>A (GMPR2) | NP_001269952.1:p.Gly214Asp | |
| NM_016576.4:c.779G>A (GMPR2) | NP_057660.2:p.Gly260Asp | |
| NR_104265.1:n.1210G>A (GMPR2) | ||
| XM_005267528.2:c.1221+1791C>T (TINF2) | XP_005267585.1:n.1221+1791C>T | |
| XM_005267740.3:c.725G>A (GMPR2) | XP_005267797.1:p.Gly242Asp | |
| XM_005267741.3:c.725G>A (GMPR2) | XP_005267798.1:p.Gly242Asp | |
| XM_005267742.2:c.725G>A (GMPR2) | XP_005267799.1:p.Gly242Asp | |
| XM_006720165.2:c.617G>A (GMPR2) | XP_006720228.1:p.Gly206Asp | |
| NM_001351022.1:c.725G>A (GMPR2) | NP_001337951.1:p.Gly242Asp | |
| NM_001351023.1:c.725G>A (GMPR2) | NP_001337952.1:p.Gly242Asp | |
| NM_001351024.1:c.617G>A (GMPR2) | NP_001337953.1:p.Gly206Asp | |
| NM_001351025.1:c.617G>A (GMPR2) | NP_001337954.1:p.Gly206Asp | |
| NM_001351026.1:c.617G>A (GMPR2) | NP_001337955.1:p.Gly206Asp | |
| XM_005267742.3:c.725G>A (GMPR2) | XP_005267799.1:p.Gly242Asp | |
| XM_017021356.1:c.617G>A (GMPR2) | XP_016876845.1:p.Gly206Asp | |
| XM_017021360.1:c.236G>A (GMPR2) | XP_016876849.1:p.Gly79Asp | |
| NM_001002000.3:c.725G>A (GMPR2) | NP_001002000.1:p.Gly242Asp | |
| NM_001002001.3:c.725G>A (GMPR2) | NP_001002001.1:p.Gly242Asp | |
| NM_001002002.3:c.725G>A (GMPR2) MANE Select | NP_001002002.1:p.Gly242Asp | |
| NM_001283021.2:c.617G>A (GMPR2) | NP_001269950.1:p.Gly206Asp | |
| NM_001283022.2:c.779G>A (GMPR2) | NP_001269951.1:p.Gly260Asp | |
| NM_001283023.2:c.641G>A (GMPR2) | NP_001269952.1:p.Gly214Asp | |
| NM_001351022.2:c.725G>A (GMPR2) | NP_001337951.1:p.Gly242Asp | |
| NM_001351023.2:c.725G>A (GMPR2) | NP_001337952.1:p.Gly242Asp | |
| NM_001351024.2:c.617G>A (GMPR2) | NP_001337953.1:p.Gly206Asp | |
| NM_001351025.2:c.617G>A (GMPR2) | NP_001337954.1:p.Gly206Asp | |
| NM_001351026.2:c.617G>A (GMPR2) | NP_001337955.1:p.Gly206Asp | |
| NM_016576.5:c.779G>A (GMPR2) | NP_057660.2:p.Gly260Asp | |
| NR_104265.2:n.1010G>A (GMPR2) |