Linked Data
ClinVar Variation Id:
282879
dbSNP Id:
rs145036293
ExAC:
14:64632114 C / A
gnomAD v2:
14-64632114-C-A
gnomAD v3:
14-64165396-C-A
gnomAD v4:
14-64165396-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64165396C>A , CM000676.2:g.64165396C>A | GRCh38 |
| NC_000014.8:g.64632114C>A , CM000676.1:g.64632114C>A | GRCh37 |
| NC_000014.7:g.63701867C>A | NCBI36 |
| NG_011756.1:g.317432C>A | |
| NG_011756.2:g.408498C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555002.6:c.16591C>A (SYNE2) MANE Select | ENSP00000450831.2:p.Pro5531Thr | |
| ENST00000344113.8:c.16591C>A (SYNE2) | ENSP00000341781.4:p.Pro5531Thr | |
| ENST00000357395.7:c.16248+1815C>A (SYNE2) | ENSP00000349969.4:n.16248+1815C>A | |
| ENST00000358025.7:c.16591C>A (SYNE2) | ENSP00000350719.3:p.Pro5531Thr | |
| ENST00000394768.6:c.5746C>A (SYNE2) | ENSP00000378249.2:p.Pro1916Thr | |
| ENST00000553289.5:c.346C>A (SYNE2) | ENSP00000451184.1:p.Pro116Thr | |
| ENST00000554584.5:c.16230+1815C>A (SYNE2) | ENSP00000452570.1:n.16230+1815C>A | |
| ENST00000555002.5:c.6493C>A (SYNE2) | ENSP00000450831.1:p.Pro2165Thr | |
| ENST00000555612.5:c.1477C>A (SYNE2) | ENSP00000451972.1:p.Pro493Thr | |
| ENST00000556275.5:c.1406+69574G>T (ESR2) | ENSP00000452485.2:n.1406+69574G>T | |
| NM_015180.4:c.16591C>A (SYNE2) | NP_055995.4:p.Pro5531Thr | |
| NM_182914.2:c.16591C>A (SYNE2) | NP_878918.2:p.Pro5531Thr | |
| XM_005267454.1:c.16591C>A (SYNE2) | XP_005267511.1:p.Pro5531Thr | |
| XM_005267456.1:c.16591C>A (SYNE2) | XP_005267513.1:p.Pro5531Thr | |
| XM_005267457.1:c.16591C>A (SYNE2) | XP_005267514.1:p.Pro5531Thr | |
| XM_005267458.1:c.16591C>A (SYNE2) | XP_005267515.1:p.Pro5531Thr | |
| XM_005267459.1:c.16591C>A (SYNE2) | XP_005267516.1:p.Pro5531Thr | |
| XM_011536574.1:c.16591C>A (SYNE2) | XP_011534876.1:p.Pro5531Thr | |
| XM_011536575.1:c.16591C>A (SYNE2) | XP_011534877.1:p.Pro5531Thr | |
| XM_011536576.1:c.16591C>A (SYNE2) | XP_011534878.1:p.Pro5531Thr | |
| XM_011536577.1:c.16591C>A (SYNE2) | XP_011534879.1:p.Pro5531Thr | |
| XM_011536578.1:c.16591C>A (SYNE2) | XP_011534880.1:p.Pro5531Thr | |
| XM_011536579.1:c.16591C>A (SYNE2) | XP_011534881.1:p.Pro5531Thr | |
| XM_011536580.1:c.16591C>A (SYNE2) | XP_011534882.1:p.Pro5531Thr | |
| XM_011536581.1:c.16591C>A (SYNE2) | XP_011534883.1:p.Pro5531Thr | |
| XM_011536582.1:c.16474C>A (SYNE2) | XP_011534884.1:p.Pro5492Thr | |
| XM_011536583.1:c.13396C>A (SYNE2) | XP_011534885.1:p.Pro4466Thr | |
| XM_011536575.2:c.16591C>A (SYNE2) | XP_011534877.1:p.Pro5531Thr | |
| XM_011536576.2:c.16591C>A (SYNE2) | XP_011534878.1:p.Pro5531Thr | |
| XM_011536577.2:c.16591C>A (SYNE2) | XP_011534879.1:p.Pro5531Thr | |
| XM_011536580.2:c.16591C>A (SYNE2) | XP_011534882.1:p.Pro5531Thr | |
| XM_017021101.1:c.16591C>A (SYNE2) | XP_016876590.1:p.Pro5531Thr | |
| XM_017021102.1:c.16522C>A (SYNE2) | XP_016876591.1:p.Pro5508Thr | |
| NM_015180.5:c.16591C>A (SYNE2) | NP_055995.4:p.Pro5531Thr | |
| NM_015180.6:c.16591C>A (SYNE2) | NP_055995.4:p.Pro5531Thr | |
| NM_182914.3:c.16591C>A (SYNE2) MANE Select | NP_878918.2:p.Pro5531Thr |