Linked Data
ClinVar Variation Id:
313668
dbSNP Id:
rs147848144
ExAC:
14:64692056 C / T
gnomAD v2:
14-64692056-C-T
gnomAD v3:
14-64225338-C-T
gnomAD v4:
14-64225338-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64225338C>T , CM000676.2:g.64225338C>T | GRCh38 |
| NC_000014.8:g.64692056C>T , CM000676.1:g.64692056C>T | GRCh37 |
| NC_000014.7:g.63761809C>T | NCBI36 |
| NG_011535.1:g.118213G>A | |
| NG_011756.1:g.377374C>T | |
| NG_011756.2:g.468440C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554805.6:n.2389C>T (SYNE2) | ||
| ENST00000555002.6:c.20536C>T (SYNE2) MANE Select | ENSP00000450831.2:p.Pro6846Ser | |
| ENST00000344113.8:c.20470C>T (SYNE2) | ENSP00000341781.4:p.Pro6824Ser | |
| ENST00000357395.7:c.20249C>T (SYNE2) | ENSP00000349969.4:p.Ala6750Val | |
| ENST00000358025.7:c.20536C>T (SYNE2) | ENSP00000350719.3:p.Pro6846Ser | |
| ENST00000394768.6:c.9625C>T (SYNE2) | ENSP00000378249.2:p.Pro3209Ser | |
| ENST00000441438.2:c.1102C>T (SYNE2) | ENSP00000396794.2:p.Pro368Ser | |
| ENST00000458046.6:c.1483C>T (SYNE2) | ENSP00000391937.2:p.Pro495Ser | |
| ENST00000553289.5:c.*2345C>T (SYNE2) | ENSP00000451184.1:n.*2345C>T | |
| ENST00000554584.5:c.20231C>T (SYNE2) | ENSP00000452570.1:p.Ala6744Val | |
| ENST00000554805.5:c.1819C>T (SYNE2) | ENSP00000450605.1:p.Pro607Ser | |
| ENST00000555002.5:c.10438C>T (SYNE2) | ENSP00000450831.1:p.Pro3480Ser | |
| ENST00000555022.5:c.2104C>T (SYNE2) | ENSP00000451009.1:p.Pro702Ser | |
| ENST00000555612.5:c.*2291C>T (SYNE2) | ENSP00000451972.1:n.*2291C>T | |
| ENST00000556275.5:c.1406+9632G>A (ESR2) | ENSP00000452485.2:n.1406+9632G>A | |
| NM_015180.4:c.20470C>T (SYNE2) | NP_055995.4:p.Pro6824Ser | |
| NM_182910.2:c.1102C>T (SYNE2) | NP_878914.1:p.Pro368Ser | |
| NM_182913.2:c.1483C>T (SYNE2) | NP_878917.1:p.Pro495Ser | |
| NM_182914.2:c.20536C>T (SYNE2) | NP_878918.2:p.Pro6846Ser | |
| XM_005267454.1:c.20581C>T (SYNE2) | XP_005267511.1:p.Pro6861Ser | |
| XM_005267456.1:c.20578C>T (SYNE2) | XP_005267513.1:p.Pro6860Ser | |
| XM_005267457.1:c.20539C>T (SYNE2) | XP_005267514.1:p.Pro6847Ser | |
| XM_005267458.1:c.20512C>T (SYNE2) | XP_005267515.1:p.Pro6838Ser | |
| XM_005267459.1:c.20467C>T (SYNE2) | XP_005267516.1:p.Pro6823Ser | |
| XM_011536545.1:c.1406+9632G>A (ESR2) | XP_011534847.1:n.1406+9632G>A | |
| XM_011536574.1:c.20623C>T (SYNE2) | XP_011534876.1:p.Pro6875Ser | |
| XM_011536575.1:c.20623C>T (SYNE2) | XP_011534877.1:p.Pro6875Ser | |
| XM_011536576.1:c.20623C>T (SYNE2) | XP_011534878.1:p.Pro6875Ser | |
| XM_011536577.1:c.20623C>T (SYNE2) | XP_011534879.1:p.Pro6875Ser | |
| XM_011536578.1:c.20620C>T (SYNE2) | XP_011534880.1:p.Pro6874Ser | |
| XM_011536579.1:c.20581C>T (SYNE2) | XP_011534881.1:p.Pro6861Ser | |
| XM_011536580.1:c.20578C>T (SYNE2) | XP_011534882.1:p.Pro6860Ser | |
| XM_011536581.1:c.20554C>T (SYNE2) | XP_011534883.1:p.Pro6852Ser | |
| XM_011536582.1:c.20506C>T (SYNE2) | XP_011534884.1:p.Pro6836Ser | |
| XM_011536583.1:c.17428C>T (SYNE2) | XP_011534885.1:p.Pro5810Ser | |
| XM_011536575.2:c.20623C>T (SYNE2) | XP_011534877.1:p.Pro6875Ser | |
| XM_011536576.2:c.20623C>T (SYNE2) | XP_011534878.1:p.Pro6875Ser | |
| XM_011536577.2:c.20623C>T (SYNE2) | XP_011534879.1:p.Pro6875Ser | |
| XM_011536580.2:c.20578C>T (SYNE2) | XP_011534882.1:p.Pro6860Ser | |
| XM_017021101.1:c.20623C>T (SYNE2) | XP_016876590.1:p.Pro6875Ser | |
| XM_017021102.1:c.20554C>T (SYNE2) | XP_016876591.1:p.Pro6852Ser | |
| XM_017021103.2:c.2563C>T (SYNE2) | XP_016876592.1:p.Pro855Ser | |
| XM_017021104.2:c.2560C>T (SYNE2) | XP_016876593.1:p.Pro854Ser | |
| NM_015180.5:c.20470C>T (SYNE2) | NP_055995.4:p.Pro6824Ser | |
| NM_182913.3:c.1483C>T (SYNE2) | NP_878917.1:p.Pro495Ser | |
| NM_015180.6:c.20470C>T (SYNE2) | NP_055995.4:p.Pro6824Ser | |
| NM_182913.4:c.1483C>T (SYNE2) | NP_878917.1:p.Pro495Ser | |
| NM_182914.3:c.20536C>T (SYNE2) MANE Select | NP_878918.2:p.Pro6846Ser |