Revel Score:
ENST00000358025
0.075
ENST00000357395
0.075
ENST00000344113
0.075
ENST00000554584
0.075
ENST00000261678
0.075
ENST00000555002 (MANE Select)
0.075
ENST00000394768
0.075
ENST00000555022
0.075
ENST00000554805
0.075
ENST00000458046
0.075
ENST00000441438
0.075
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01146638 (MID)
Genomes Max Group AF
0.00266255 (NFE)
Exomes Max Group AF
0.011578 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64220540A>T , CM000676.2:g.64220540A>T | GRCh38 |
| NC_000014.8:g.64687258A>T , CM000676.1:g.64687258A>T | GRCh37 |
| NC_000014.7:g.63757011A>T | NCBI36 |
| NG_011756.1:g.372576A>T | |
| NG_011756.2:g.463642A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554805.6:n.1814A>T (SYNE2) | ||
| ENST00000555002.6:c.19964A>T (SYNE2) MANE Select | ENSP00000450831.2:p.Gln6655Leu | |
| ENST00000344113.8:c.19895A>T (SYNE2) | ENSP00000341781.4:p.Gln6632Leu | |
| ENST00000357395.7:c.19661A>T (SYNE2) | ENSP00000349969.4:p.Gln6554Leu | |
| ENST00000358025.7:c.19964A>T (SYNE2) | ENSP00000350719.3:p.Gln6655Leu | |
| ENST00000394768.6:c.9050A>T (SYNE2) | ENSP00000378249.2:p.Gln3017Leu | |
| ENST00000441438.2:c.488A>T (SYNE2) | ENSP00000396794.2:p.Gln163Leu | |
| ENST00000458046.6:c.866A>T (SYNE2) | ENSP00000391937.2:p.Gln289Leu | |
| ENST00000553289.5:c.*1770A>T (SYNE2) | ENSP00000451184.1:n.*1770A>T | |
| ENST00000554584.5:c.19643A>T (SYNE2) | ENSP00000452570.1:p.Gln6548Leu | |
| ENST00000554805.5:c.1244A>T (SYNE2) | ENSP00000450605.1:p.Gln415Leu | |
| ENST00000554928.1:n.588A>T (SYNE2) | ||
| ENST00000555002.5:c.9866A>T (SYNE2) | ENSP00000450831.1:p.Gln3289Leu | |
| ENST00000555022.5:c.1529A>T (SYNE2) | ENSP00000451009.1:p.Gln510Leu | |
| ENST00000555612.5:c.*1674A>T (SYNE2) | ENSP00000451972.1:n.*1674A>T | |
| ENST00000556275.5:c.1406+14430T>A (ESR2) | ENSP00000452485.2:n.1406+14430T>A | |
| NM_015180.4:c.19895A>T (SYNE2) | NP_055995.4:p.Gln6632Leu | |
| NM_182910.2:c.488A>T (SYNE2) | NP_878914.1:p.Gln163Leu | |
| NM_182913.2:c.866A>T (SYNE2) | NP_878917.1:p.Gln289Leu | |
| NM_182914.2:c.19964A>T (SYNE2) | NP_878918.2:p.Gln6655Leu | |
| XM_005267454.1:c.19964A>T (SYNE2) | XP_005267511.1:p.Gln6655Leu | |
| XM_005267456.1:c.19964A>T (SYNE2) | XP_005267513.1:p.Gln6655Leu | |
| XM_005267457.1:c.19964A>T (SYNE2) | XP_005267514.1:p.Gln6655Leu | |
| XM_005267458.1:c.19895A>T (SYNE2) | XP_005267515.1:p.Gln6632Leu | |
| XM_005267459.1:c.19895A>T (SYNE2) | XP_005267516.1:p.Gln6632Leu | |
| XM_011536545.1:c.1406+14430T>A (ESR2) | XP_011534847.1:n.1406+14430T>A | |
| XM_011536574.1:c.20006A>T (SYNE2) | XP_011534876.1:p.Gln6669Leu | |
| XM_011536575.1:c.20006A>T (SYNE2) | XP_011534877.1:p.Gln6669Leu | |
| XM_011536576.1:c.20006A>T (SYNE2) | XP_011534878.1:p.Gln6669Leu | |
| XM_011536577.1:c.20006A>T (SYNE2) | XP_011534879.1:p.Gln6669Leu | |
| XM_011536578.1:c.20006A>T (SYNE2) | XP_011534880.1:p.Gln6669Leu | |
| XM_011536579.1:c.20006A>T (SYNE2) | XP_011534881.1:p.Gln6669Leu | |
| XM_011536580.1:c.20006A>T (SYNE2) | XP_011534882.1:p.Gln6669Leu | |
| XM_011536581.1:c.19937A>T (SYNE2) | XP_011534883.1:p.Gln6646Leu | |
| XM_011536582.1:c.19889A>T (SYNE2) | XP_011534884.1:p.Gln6630Leu | |
| XM_011536583.1:c.16811A>T (SYNE2) | XP_011534885.1:p.Gln5604Leu | |
| XM_011536575.2:c.20006A>T (SYNE2) | XP_011534877.1:p.Gln6669Leu | |
| XM_011536576.2:c.20006A>T (SYNE2) | XP_011534878.1:p.Gln6669Leu | |
| XM_011536577.2:c.20006A>T (SYNE2) | XP_011534879.1:p.Gln6669Leu | |
| XM_011536580.2:c.20006A>T (SYNE2) | XP_011534882.1:p.Gln6669Leu | |
| XM_017021101.1:c.20006A>T (SYNE2) | XP_016876590.1:p.Gln6669Leu | |
| XM_017021102.1:c.19937A>T (SYNE2) | XP_016876591.1:p.Gln6646Leu | |
| XM_017021103.2:c.1946A>T (SYNE2) | XP_016876592.1:p.Gln649Leu | |
| XM_017021104.2:c.1946A>T (SYNE2) | XP_016876593.1:p.Gln649Leu | |
| NM_015180.5:c.19895A>T (SYNE2) | NP_055995.4:p.Gln6632Leu | |
| NM_182913.3:c.866A>T (SYNE2) | NP_878917.1:p.Gln289Leu | |
| NM_015180.6:c.19895A>T (SYNE2) | NP_055995.4:p.Gln6632Leu | |
| NM_182913.4:c.866A>T (SYNE2) | NP_878917.1:p.Gln289Leu | |
| NM_182914.3:c.19964A>T (SYNE2) MANE Select | NP_878918.2:p.Gln6655Leu |