Linked Data
ClinVar Variation Id:
1168063
dbSNP Id:
rs2072797
ExAC:
22:39134207 C / T
gnomAD v2:
22-39134207-C-T
gnomAD v3:
22-38738202-C-T
gnomAD v4:
22-38738202-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38738202C>T , CM000684.2:g.38738202C>T | GRCh38 |
| NC_000022.10:g.39134207C>T , CM000684.1:g.39134207C>T | GRCh37 |
| NC_000022.9:g.37464153C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000455125.2:c.2011G>A (SUN2) | ENSP00000390154.2:p.Gly671Ser | |
| ENST00000456894.6:c.1873G>A (SUN2) | ENSP00000415588.3:p.Gly625Ser | |
| ENST00000689035.1:c.2011G>A (SUN2) MANE Select | ENSP00000508608.1:p.Gly671Ser | |
| ENST00000690927.1:c.1777G>A (SUN2) | ENSP00000508791.1:p.Gly593Ser | |
| ENST00000405018.5:c.2074G>A (SUN2) | ENSP00000385616.1:p.Gly692Ser | |
| ENST00000405510.5:c.2011G>A (SUN2) | ENSP00000385740.1:p.Gly671Ser | |
| ENST00000406622.5:c.2011G>A (SUN2) | ENSP00000383992.1:p.Gly671Ser | |
| ENST00000455125.1:c.430G>A (SUN2) | ENSP00000390154.1:p.Gly144Ser | |
| ENST00000458073.5:c.1253C>T (GTPBP1) | ENSP00000388147.1:n.1253C>T | |
| ENST00000489527.1:c.325C>T (GTPBP1) | ||
| NM_001199579.1:c.2074G>A (SUN2) | NP_001186508.1:p.Gly692Ser | |
| NM_001199580.1:c.2011G>A (SUN2) | NP_001186509.1:p.Gly671Ser | |
| NM_015374.2:c.2011G>A (SUN2) | NP_056189.1:p.Gly671Ser | |
| XM_011530104.1:c.1873G>A (SUN2) | XP_011528406.1:p.Gly625Ser | |
| XM_011530105.1:c.1978G>A (SUN2) | XP_011528407.1:p.Gly660Ser | |
| XM_011530104.2:c.1873G>A (SUN2) | XP_011528406.1:p.Gly625Ser | |
| XM_011530105.2:c.1978G>A (SUN2) | XP_011528407.1:p.Gly660Ser | |
| XM_011530537.2:c.*203C>T (GTPBP1) | XP_011528839.1:n.*203C>T | |
| XM_017028748.1:c.2011G>A (SUN2) | XP_016884237.1:p.Gly671Ser | |
| XM_024452203.1:c.2290G>A (SUN2) | XP_024307971.1:p.Gly764Ser | |
| XM_024452204.1:c.2116G>A (SUN2) | XP_024307972.1:p.Gly706Ser | |
| XM_024452205.1:c.2011G>A (SUN2) | XP_024307973.1:p.Gly671Ser | |
| XM_024452206.1:c.1873G>A (SUN2) | XP_024307974.1:p.Gly625Ser | |
| NM_001199579.2:c.2074G>A (SUN2) | NP_001186508.1:p.Gly692Ser | |
| NM_001199580.2:c.2011G>A (SUN2) | NP_001186509.1:p.Gly671Ser | |
| NM_015374.3:c.2011G>A (SUN2) MANE Select | NP_056189.1:p.Gly671Ser | |
| NM_001394427.1:c.2104G>A (SUN2) | NP_001381356.1:p.Gly702Ser | |
| NM_001394428.1:c.2074G>A (SUN2) | NP_001381357.1:p.Gly692Ser | |
| NM_001394429.1:c.2056G>A (SUN2) | NP_001381358.1:p.Gly686Ser | |
| NM_001394430.1:c.2056G>A (SUN2) | NP_001381359.1:p.Gly686Ser | |
| NM_001394431.1:c.2011G>A (SUN2) | NP_001381360.1:p.Gly671Ser | |
| NM_001394432.1:c.2011G>A (SUN2) | NP_001381361.1:p.Gly671Ser | |
| NM_001394433.1:c.2011G>A (SUN2) | NP_001381362.1:p.Gly671Ser | |
| NM_001394434.1:c.2011G>A (SUN2) | NP_001381363.1:p.Gly671Ser | |
| NM_001394435.1:c.2011G>A (SUN2) | NP_001381364.1:p.Gly671Ser | |
| NM_001394436.1:c.2008G>A (SUN2) | NP_001381365.1:p.Gly670Ser | |
| NM_001394437.1:c.2008G>A (SUN2) | NP_001381366.1:p.Gly670Ser | |
| NM_001394438.1:c.1921G>A (SUN2) | NP_001381367.1:p.Gly641Ser | |
| NM_001394439.1:c.1873G>A (SUN2) | NP_001381368.1:p.Gly625Ser | |
| NM_001394440.1:c.1873G>A (SUN2) | NP_001381369.1:p.Gly625Ser | |
| NM_001394441.1:c.1873G>A (SUN2) | NP_001381370.1:p.Gly625Ser | |
| NM_001394442.1:c.1612G>A (SUN2) | NP_001381371.1:p.Gly538Ser | |
| NM_001394443.1:c.1519G>A (SUN2) | NP_001381372.1:p.Gly507Ser | |
| NM_001394444.1:c.1435G>A (SUN2) | NP_001381373.1:p.Gly479Ser | |
| NM_001394445.1:c.1435G>A (SUN2) | NP_001381374.1:p.Gly479Ser |