Linked Data
ClinVar Variation Id:
193957
dbSNP Id:
rs201472187
ExAC:
14:64692062 C / T
gnomAD v2:
14-64692062-C-T
gnomAD v3:
14-64225344-C-T
gnomAD v4:
14-64225344-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64225344C>T , CM000676.2:g.64225344C>T | GRCh38 |
| NC_000014.8:g.64692062C>T , CM000676.1:g.64692062C>T | GRCh37 |
| NC_000014.7:g.63761815C>T | NCBI36 |
| NG_011535.1:g.118207G>A | |
| NG_011756.1:g.377380C>T | |
| NG_011756.2:g.468446C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554805.6:n.2395C>T (SYNE2) | ||
| ENST00000555002.6:c.20542C>T (SYNE2) MANE Select | ENSP00000450831.2:p.Arg6848Cys | |
| ENST00000344113.8:c.20476C>T (SYNE2) | ENSP00000341781.4:p.Arg6826Cys | |
| ENST00000357395.7:c.20255C>T (SYNE2) | ENSP00000349969.4:p.Ala6752Val | |
| ENST00000358025.7:c.20542C>T (SYNE2) | ENSP00000350719.3:p.Arg6848Cys | |
| ENST00000394768.6:c.9631C>T (SYNE2) | ENSP00000378249.2:p.Arg3211Cys | |
| ENST00000441438.2:c.1108C>T (SYNE2) | ENSP00000396794.2:p.Arg370Cys | |
| ENST00000458046.6:c.1489C>T (SYNE2) | ENSP00000391937.2:p.Arg497Cys | |
| ENST00000553289.5:c.*2351C>T (SYNE2) | ENSP00000451184.1:n.*2351C>T | |
| ENST00000554584.5:c.20237C>T (SYNE2) | ENSP00000452570.1:p.Ala6746Val | |
| ENST00000554805.5:c.1825C>T (SYNE2) | ENSP00000450605.1:p.Arg609Cys | |
| ENST00000555002.5:c.10444C>T (SYNE2) | ENSP00000450831.1:p.Arg3482Cys | |
| ENST00000555022.5:c.2110C>T (SYNE2) | ENSP00000451009.1:p.Arg704Cys | |
| ENST00000555612.5:c.*2297C>T (SYNE2) | ENSP00000451972.1:n.*2297C>T | |
| ENST00000556275.5:c.1406+9626G>A (ESR2) | ENSP00000452485.2:n.1406+9626G>A | |
| NM_015180.4:c.20476C>T (SYNE2) | NP_055995.4:p.Arg6826Cys | |
| NM_182910.2:c.1108C>T (SYNE2) | NP_878914.1:p.Arg370Cys | |
| NM_182913.2:c.1489C>T (SYNE2) | NP_878917.1:p.Arg497Cys | |
| NM_182914.2:c.20542C>T (SYNE2) | NP_878918.2:p.Arg6848Cys | |
| XM_005267454.1:c.20587C>T (SYNE2) | XP_005267511.1:p.Arg6863Cys | |
| XM_005267456.1:c.20584C>T (SYNE2) | XP_005267513.1:p.Arg6862Cys | |
| XM_005267457.1:c.20545C>T (SYNE2) | XP_005267514.1:p.Arg6849Cys | |
| XM_005267458.1:c.20518C>T (SYNE2) | XP_005267515.1:p.Arg6840Cys | |
| XM_005267459.1:c.20473C>T (SYNE2) | XP_005267516.1:p.Arg6825Cys | |
| XM_011536545.1:c.1406+9626G>A (ESR2) | XP_011534847.1:n.1406+9626G>A | |
| XM_011536574.1:c.20629C>T (SYNE2) | XP_011534876.1:p.Arg6877Cys | |
| XM_011536575.1:c.20629C>T (SYNE2) | XP_011534877.1:p.Arg6877Cys | |
| XM_011536576.1:c.20629C>T (SYNE2) | XP_011534878.1:p.Arg6877Cys | |
| XM_011536577.1:c.20629C>T (SYNE2) | XP_011534879.1:p.Arg6877Cys | |
| XM_011536578.1:c.20626C>T (SYNE2) | XP_011534880.1:p.Arg6876Cys | |
| XM_011536579.1:c.20587C>T (SYNE2) | XP_011534881.1:p.Arg6863Cys | |
| XM_011536580.1:c.20584C>T (SYNE2) | XP_011534882.1:p.Arg6862Cys | |
| XM_011536581.1:c.20560C>T (SYNE2) | XP_011534883.1:p.Arg6854Cys | |
| XM_011536582.1:c.20512C>T (SYNE2) | XP_011534884.1:p.Arg6838Cys | |
| XM_011536583.1:c.17434C>T (SYNE2) | XP_011534885.1:p.Arg5812Cys | |
| XM_011536575.2:c.20629C>T (SYNE2) | XP_011534877.1:p.Arg6877Cys | |
| XM_011536576.2:c.20629C>T (SYNE2) | XP_011534878.1:p.Arg6877Cys | |
| XM_011536577.2:c.20629C>T (SYNE2) | XP_011534879.1:p.Arg6877Cys | |
| XM_011536580.2:c.20584C>T (SYNE2) | XP_011534882.1:p.Arg6862Cys | |
| XM_017021101.1:c.20629C>T (SYNE2) | XP_016876590.1:p.Arg6877Cys | |
| XM_017021102.1:c.20560C>T (SYNE2) | XP_016876591.1:p.Arg6854Cys | |
| XM_017021103.2:c.2569C>T (SYNE2) | XP_016876592.1:p.Arg857Cys | |
| XM_017021104.2:c.2566C>T (SYNE2) | XP_016876593.1:p.Arg856Cys | |
| NM_015180.5:c.20476C>T (SYNE2) | NP_055995.4:p.Arg6826Cys | |
| NM_182913.3:c.1489C>T (SYNE2) | NP_878917.1:p.Arg497Cys | |
| NM_015180.6:c.20476C>T (SYNE2) | NP_055995.4:p.Arg6826Cys | |
| NM_182913.4:c.1489C>T (SYNE2) | NP_878917.1:p.Arg497Cys | |
| NM_182914.3:c.20542C>T (SYNE2) MANE Select | NP_878918.2:p.Arg6848Cys |