Linked Data
ClinVar Variation Id:
313637
dbSNP Id:
rs182079744
ExAC:
14:64669670 G / A
gnomAD v2:
14-64669670-G-A
gnomAD v3:
14-64202952-G-A
gnomAD v4:
14-64202952-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64202952G>A , CM000676.2:g.64202952G>A | GRCh38 |
| NC_000014.8:g.64669670G>A , CM000676.1:g.64669670G>A | GRCh37 |
| NC_000014.7:g.63739423G>A | NCBI36 |
| NG_011756.1:g.354988G>A | |
| NG_011756.2:g.446054G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555002.6:c.18190G>A (SYNE2) MANE Select | ENSP00000450831.2:p.Ala6064Thr | |
| ENST00000344113.8:c.18190G>A (SYNE2) | ENSP00000341781.4:p.Ala6064Thr | |
| ENST00000357395.7:c.18094G>A (SYNE2) | ENSP00000349969.4:p.Ala6032Thr | |
| ENST00000358025.7:c.18190G>A (SYNE2) | ENSP00000350719.3:p.Ala6064Thr | |
| ENST00000394768.6:c.7345G>A (SYNE2) | ENSP00000378249.2:p.Ala2449Thr | |
| ENST00000553289.5:c.*65G>A (SYNE2) | ENSP00000451184.1:n.*65G>A | |
| ENST00000553801.1:n.322-5806G>A (SYNE2) | ||
| ENST00000554584.5:c.18076G>A (SYNE2) | ENSP00000452570.1:p.Ala6026Thr | |
| ENST00000555002.5:c.8092G>A (SYNE2) | ENSP00000450831.1:p.Ala2698Thr | |
| ENST00000555241.5:n.466G>A (SYNE2) | ||
| ENST00000555612.5:c.3076G>A (SYNE2) | ENSP00000451972.1:p.Ala1026Thr | |
| ENST00000556275.5:c.1406+32018C>T (ESR2) | ENSP00000452485.2:n.1406+32018C>T | |
| ENST00000556906.5:c.100G>A (SYNE2) | ENSP00000452298.1:p.Ala34Thr | |
| NM_015180.4:c.18190G>A (SYNE2) | NP_055995.4:p.Ala6064Thr | |
| NM_182914.2:c.18190G>A (SYNE2) | NP_878918.2:p.Ala6064Thr | |
| XM_005267454.1:c.18190G>A (SYNE2) | XP_005267511.1:p.Ala6064Thr | |
| XM_005267456.1:c.18190G>A (SYNE2) | XP_005267513.1:p.Ala6064Thr | |
| XM_005267457.1:c.18190G>A (SYNE2) | XP_005267514.1:p.Ala6064Thr | |
| XM_005267458.1:c.18190G>A (SYNE2) | XP_005267515.1:p.Ala6064Thr | |
| XM_005267459.1:c.18190G>A (SYNE2) | XP_005267516.1:p.Ala6064Thr | |
| XM_011536545.1:c.1407-29393C>T (ESR2) | XP_011534847.1:n.1407-29393C>T | |
| XM_011536574.1:c.18190G>A (SYNE2) | XP_011534876.1:p.Ala6064Thr | |
| XM_011536575.1:c.18190G>A (SYNE2) | XP_011534877.1:p.Ala6064Thr | |
| XM_011536576.1:c.18190G>A (SYNE2) | XP_011534878.1:p.Ala6064Thr | |
| XM_011536577.1:c.18190G>A (SYNE2) | XP_011534879.1:p.Ala6064Thr | |
| XM_011536578.1:c.18190G>A (SYNE2) | XP_011534880.1:p.Ala6064Thr | |
| XM_011536579.1:c.18190G>A (SYNE2) | XP_011534881.1:p.Ala6064Thr | |
| XM_011536580.1:c.18190G>A (SYNE2) | XP_011534882.1:p.Ala6064Thr | |
| XM_011536581.1:c.18190G>A (SYNE2) | XP_011534883.1:p.Ala6064Thr | |
| XM_011536582.1:c.18073G>A (SYNE2) | XP_011534884.1:p.Ala6025Thr | |
| XM_011536583.1:c.14995G>A (SYNE2) | XP_011534885.1:p.Ala4999Thr | |
| XM_011536575.2:c.18190G>A (SYNE2) | XP_011534877.1:p.Ala6064Thr | |
| XM_011536576.2:c.18190G>A (SYNE2) | XP_011534878.1:p.Ala6064Thr | |
| XM_011536577.2:c.18190G>A (SYNE2) | XP_011534879.1:p.Ala6064Thr | |
| XM_011536580.2:c.18190G>A (SYNE2) | XP_011534882.1:p.Ala6064Thr | |
| XM_017021101.1:c.18190G>A (SYNE2) | XP_016876590.1:p.Ala6064Thr | |
| XM_017021102.1:c.18121G>A (SYNE2) | XP_016876591.1:p.Ala6041Thr | |
| XM_017021103.2:c.172G>A (SYNE2) | XP_016876592.1:p.Ala58Thr | |
| XM_017021104.2:c.172G>A (SYNE2) | XP_016876593.1:p.Ala58Thr | |
| NM_015180.5:c.18190G>A (SYNE2) | NP_055995.4:p.Ala6064Thr | |
| NM_015180.6:c.18190G>A (SYNE2) | NP_055995.4:p.Ala6064Thr | |
| NM_182914.3:c.18190G>A (SYNE2) MANE Select | NP_878918.2:p.Ala6064Thr |