Linked Data
ClinVar Variation Id:
538357
dbSNP Id:
rs147470935
ExAC:
14:64689956 A / C
gnomAD v2:
14-64689956-A-C
gnomAD v3:
14-64223238-A-C
gnomAD v4:
14-64223238-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64223238A>C , CM000676.2:g.64223238A>C | GRCh38 |
| NC_000014.8:g.64689956A>C , CM000676.1:g.64689956A>C | GRCh37 |
| NC_000014.7:g.63759709A>C | NCBI36 |
| NG_011756.1:g.375274A>C | |
| NG_011756.2:g.466340A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554805.6:n.2090A>C (SYNE2) | ||
| ENST00000555002.6:c.20240A>C (SYNE2) MANE Select | ENSP00000450831.2:p.Gln6747Pro | |
| ENST00000344113.8:c.20171A>C (SYNE2) | ENSP00000341781.4:p.Gln6724Pro | |
| ENST00000357395.7:c.19937A>C (SYNE2) | ENSP00000349969.4:p.Gln6646Pro | |
| ENST00000358025.7:c.20240A>C (SYNE2) | ENSP00000350719.3:p.Gln6747Pro | |
| ENST00000394768.6:c.9326A>C (SYNE2) | ENSP00000378249.2:p.Gln3109Pro | |
| ENST00000441438.2:c.806A>C (SYNE2) | ENSP00000396794.2:p.Gln269Pro | |
| ENST00000458046.6:c.1184A>C (SYNE2) | ENSP00000391937.2:p.Gln395Pro | |
| ENST00000553289.5:c.*2046A>C (SYNE2) | ENSP00000451184.1:n.*2046A>C | |
| ENST00000554584.5:c.19919A>C (SYNE2) | ENSP00000452570.1:p.Gln6640Pro | |
| ENST00000554805.5:c.1520A>C (SYNE2) | ENSP00000450605.1:p.Gln507Pro | |
| ENST00000554928.1:n.906A>C (SYNE2) | ||
| ENST00000555002.5:c.10142A>C (SYNE2) | ENSP00000450831.1:p.Gln3381Pro | |
| ENST00000555022.5:c.1805A>C (SYNE2) | ENSP00000451009.1:p.Gln602Pro | |
| ENST00000555612.5:c.*1992A>C (SYNE2) | ENSP00000451972.1:n.*1992A>C | |
| ENST00000556275.5:c.1406+11732T>G (ESR2) | ENSP00000452485.2:n.1406+11732T>G | |
| NM_015180.4:c.20171A>C (SYNE2) | NP_055995.4:p.Gln6724Pro | |
| NM_182910.2:c.806A>C (SYNE2) | NP_878914.1:p.Gln269Pro | |
| NM_182913.2:c.1184A>C (SYNE2) | NP_878917.1:p.Gln395Pro | |
| NM_182914.2:c.20240A>C (SYNE2) | NP_878918.2:p.Gln6747Pro | |
| XM_005267454.1:c.20282A>C (SYNE2) | XP_005267511.1:p.Gln6761Pro | |
| XM_005267456.1:c.20282A>C (SYNE2) | XP_005267513.1:p.Gln6761Pro | |
| XM_005267457.1:c.20240A>C (SYNE2) | XP_005267514.1:p.Gln6747Pro | |
| XM_005267458.1:c.20213A>C (SYNE2) | XP_005267515.1:p.Gln6738Pro | |
| XM_005267459.1:c.20171A>C (SYNE2) | XP_005267516.1:p.Gln6724Pro | |
| XM_011536545.1:c.1406+11732T>G (ESR2) | XP_011534847.1:n.1406+11732T>G | |
| XM_011536574.1:c.20324A>C (SYNE2) | XP_011534876.1:p.Gln6775Pro | |
| XM_011536575.1:c.20324A>C (SYNE2) | XP_011534877.1:p.Gln6775Pro | |
| XM_011536576.1:c.20324A>C (SYNE2) | XP_011534878.1:p.Gln6775Pro | |
| XM_011536577.1:c.20324A>C (SYNE2) | XP_011534879.1:p.Gln6775Pro | |
| XM_011536578.1:c.20324A>C (SYNE2) | XP_011534880.1:p.Gln6775Pro | |
| XM_011536579.1:c.20282A>C (SYNE2) | XP_011534881.1:p.Gln6761Pro | |
| XM_011536580.1:c.20282A>C (SYNE2) | XP_011534882.1:p.Gln6761Pro | |
| XM_011536581.1:c.20255A>C (SYNE2) | XP_011534883.1:p.Gln6752Pro | |
| XM_011536582.1:c.20207A>C (SYNE2) | XP_011534884.1:p.Gln6736Pro | |
| XM_011536583.1:c.17129A>C (SYNE2) | XP_011534885.1:p.Gln5710Pro | |
| XM_011536575.2:c.20324A>C (SYNE2) | XP_011534877.1:p.Gln6775Pro | |
| XM_011536576.2:c.20324A>C (SYNE2) | XP_011534878.1:p.Gln6775Pro | |
| XM_011536577.2:c.20324A>C (SYNE2) | XP_011534879.1:p.Gln6775Pro | |
| XM_011536580.2:c.20282A>C (SYNE2) | XP_011534882.1:p.Gln6761Pro | |
| XM_017021101.1:c.20324A>C (SYNE2) | XP_016876590.1:p.Gln6775Pro | |
| XM_017021102.1:c.20255A>C (SYNE2) | XP_016876591.1:p.Gln6752Pro | |
| XM_017021103.2:c.2264A>C (SYNE2) | XP_016876592.1:p.Gln755Pro | |
| XM_017021104.2:c.2264A>C (SYNE2) | XP_016876593.1:p.Gln755Pro | |
| NM_015180.5:c.20171A>C (SYNE2) | NP_055995.4:p.Gln6724Pro | |
| NM_182913.3:c.1184A>C (SYNE2) | NP_878917.1:p.Gln395Pro | |
| NM_015180.6:c.20171A>C (SYNE2) | NP_055995.4:p.Gln6724Pro | |
| NM_182913.4:c.1184A>C (SYNE2) | NP_878917.1:p.Gln395Pro | |
| NM_182914.3:c.20240A>C (SYNE2) MANE Select | NP_878918.2:p.Gln6747Pro |