Linked Data
ClinVar Variation Id:
313667
dbSNP Id:
rs201538331
ExAC:
14:64692044 G / C
gnomAD v2:
14-64692044-G-C
gnomAD v3:
14-64225326-G-C
gnomAD v4:
14-64225326-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64225326G>C , CM000676.2:g.64225326G>C | GRCh38 |
| NC_000014.8:g.64692044G>C , CM000676.1:g.64692044G>C | GRCh37 |
| NC_000014.7:g.63761797G>C | NCBI36 |
| NG_011535.1:g.118225C>G | |
| NG_011756.1:g.377362G>C | |
| NG_011756.2:g.468428G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554805.6:n.2377G>C (SYNE2) | ||
| ENST00000555002.6:c.20524G>C (SYNE2) MANE Select | ENSP00000450831.2:p.Gly6842Arg | |
| ENST00000344113.8:c.20458G>C (SYNE2) | ENSP00000341781.4:p.Gly6820Arg | |
| ENST00000357395.7:c.20237G>C (SYNE2) | ENSP00000349969.4:p.Arg6746Pro | |
| ENST00000358025.7:c.20524G>C (SYNE2) | ENSP00000350719.3:p.Gly6842Arg | |
| ENST00000394768.6:c.9613G>C (SYNE2) | ENSP00000378249.2:p.Gly3205Arg | |
| ENST00000441438.2:c.1090G>C (SYNE2) | ENSP00000396794.2:p.Gly364Arg | |
| ENST00000458046.6:c.1471G>C (SYNE2) | ENSP00000391937.2:p.Gly491Arg | |
| ENST00000553289.5:c.*2333G>C (SYNE2) | ENSP00000451184.1:n.*2333G>C | |
| ENST00000554584.5:c.20219G>C (SYNE2) | ENSP00000452570.1:p.Arg6740Pro | |
| ENST00000554805.5:c.1807G>C (SYNE2) | ENSP00000450605.1:p.Gly603Arg | |
| ENST00000555002.5:c.10426G>C (SYNE2) | ENSP00000450831.1:p.Gly3476Arg | |
| ENST00000555022.5:c.2092G>C (SYNE2) | ENSP00000451009.1:p.Gly698Arg | |
| ENST00000555612.5:c.*2279G>C (SYNE2) | ENSP00000451972.1:n.*2279G>C | |
| ENST00000556275.5:c.1406+9644C>G (ESR2) | ENSP00000452485.2:n.1406+9644C>G | |
| NM_015180.4:c.20458G>C (SYNE2) | NP_055995.4:p.Gly6820Arg | |
| NM_182910.2:c.1090G>C (SYNE2) | NP_878914.1:p.Gly364Arg | |
| NM_182913.2:c.1471G>C (SYNE2) | NP_878917.1:p.Gly491Arg | |
| NM_182914.2:c.20524G>C (SYNE2) | NP_878918.2:p.Gly6842Arg | |
| XM_005267454.1:c.20569G>C (SYNE2) | XP_005267511.1:p.Gly6857Arg | |
| XM_005267456.1:c.20566G>C (SYNE2) | XP_005267513.1:p.Gly6856Arg | |
| XM_005267457.1:c.20527G>C (SYNE2) | XP_005267514.1:p.Gly6843Arg | |
| XM_005267458.1:c.20500G>C (SYNE2) | XP_005267515.1:p.Gly6834Arg | |
| XM_005267459.1:c.20455G>C (SYNE2) | XP_005267516.1:p.Gly6819Arg | |
| XM_011536545.1:c.1406+9644C>G (ESR2) | XP_011534847.1:n.1406+9644C>G | |
| XM_011536574.1:c.20611G>C (SYNE2) | XP_011534876.1:p.Gly6871Arg | |
| XM_011536575.1:c.20611G>C (SYNE2) | XP_011534877.1:p.Gly6871Arg | |
| XM_011536576.1:c.20611G>C (SYNE2) | XP_011534878.1:p.Gly6871Arg | |
| XM_011536577.1:c.20611G>C (SYNE2) | XP_011534879.1:p.Gly6871Arg | |
| XM_011536578.1:c.20608G>C (SYNE2) | XP_011534880.1:p.Gly6870Arg | |
| XM_011536579.1:c.20569G>C (SYNE2) | XP_011534881.1:p.Gly6857Arg | |
| XM_011536580.1:c.20566G>C (SYNE2) | XP_011534882.1:p.Gly6856Arg | |
| XM_011536581.1:c.20542G>C (SYNE2) | XP_011534883.1:p.Gly6848Arg | |
| XM_011536582.1:c.20494G>C (SYNE2) | XP_011534884.1:p.Gly6832Arg | |
| XM_011536583.1:c.17416G>C (SYNE2) | XP_011534885.1:p.Gly5806Arg | |
| XM_011536575.2:c.20611G>C (SYNE2) | XP_011534877.1:p.Gly6871Arg | |
| XM_011536576.2:c.20611G>C (SYNE2) | XP_011534878.1:p.Gly6871Arg | |
| XM_011536577.2:c.20611G>C (SYNE2) | XP_011534879.1:p.Gly6871Arg | |
| XM_011536580.2:c.20566G>C (SYNE2) | XP_011534882.1:p.Gly6856Arg | |
| XM_017021101.1:c.20611G>C (SYNE2) | XP_016876590.1:p.Gly6871Arg | |
| XM_017021102.1:c.20542G>C (SYNE2) | XP_016876591.1:p.Gly6848Arg | |
| XM_017021103.2:c.2551G>C (SYNE2) | XP_016876592.1:p.Gly851Arg | |
| XM_017021104.2:c.2548G>C (SYNE2) | XP_016876593.1:p.Gly850Arg | |
| NM_015180.5:c.20458G>C (SYNE2) | NP_055995.4:p.Gly6820Arg | |
| NM_182913.3:c.1471G>C (SYNE2) | NP_878917.1:p.Gly491Arg | |
| NM_015180.6:c.20458G>C (SYNE2) | NP_055995.4:p.Gly6820Arg | |
| NM_182913.4:c.1471G>C (SYNE2) | NP_878917.1:p.Gly491Arg | |
| NM_182914.3:c.20524G>C (SYNE2) MANE Select | NP_878918.2:p.Gly6842Arg |