Linked Data
ClinVar Variation Id:
313670
dbSNP Id:
rs760936547
ExAC:
14:64692222 C / A
gnomAD v2:
14-64692222-C-A
gnomAD v3:
14-64225504-C-A
gnomAD v4:
14-64225504-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64225504C>A , CM000676.2:g.64225504C>A | GRCh38 |
| NC_000014.8:g.64692222C>A , CM000676.1:g.64692222C>A | GRCh37 |
| NC_000014.7:g.63761975C>A | NCBI36 |
| NG_011535.1:g.118047G>T | |
| NG_011756.1:g.377540C>A | |
| NG_011756.2:g.468606C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554805.6:n.2555C>A (SYNE2) | ||
| ENST00000555002.6:c.20702C>A (SYNE2) MANE Select | ENSP00000450831.2:p.Thr6901Asn | |
| ENST00000344113.8:c.20636C>A (SYNE2) | ENSP00000341781.4:p.Thr6879Asn | |
| ENST00000357395.7:c.20415C>A (SYNE2) | ENSP00000349969.4:p.His6805Gln | |
| ENST00000358025.7:c.20702C>A (SYNE2) | ENSP00000350719.3:p.Thr6901Asn | |
| ENST00000394768.6:c.9791C>A (SYNE2) | ENSP00000378249.2:p.Thr3264Asn | |
| ENST00000441438.2:c.1268C>A (SYNE2) | ENSP00000396794.2:p.Thr423Asn | |
| ENST00000458046.6:c.1649C>A (SYNE2) | ENSP00000391937.2:p.Thr550Asn | |
| ENST00000553289.5:c.*2511C>A (SYNE2) | ENSP00000451184.1:n.*2511C>A | |
| ENST00000554584.5:c.20397C>A (SYNE2) | ENSP00000452570.1:p.His6799Gln | |
| ENST00000554805.5:c.1985C>A (SYNE2) | ENSP00000450605.1:p.Thr662Asn | |
| ENST00000555002.5:c.10604C>A (SYNE2) | ENSP00000450831.1:p.Thr3535Asn | |
| ENST00000555022.5:c.2270C>A (SYNE2) | ENSP00000451009.1:p.Thr757Asn | |
| ENST00000555612.5:c.*2457C>A (SYNE2) | ENSP00000451972.1:n.*2457C>A | |
| ENST00000556275.5:c.1406+9466G>T (ESR2) | ENSP00000452485.2:n.1406+9466G>T | |
| NM_015180.4:c.20636C>A (SYNE2) | NP_055995.4:p.Thr6879Asn | |
| NM_182910.2:c.1268C>A (SYNE2) | NP_878914.1:p.Thr423Asn | |
| NM_182913.2:c.1649C>A (SYNE2) | NP_878917.1:p.Thr550Asn | |
| NM_182914.2:c.20702C>A (SYNE2) | NP_878918.2:p.Thr6901Asn | |
| XM_005267454.1:c.20747C>A (SYNE2) | XP_005267511.1:p.Thr6916Asn | |
| XM_005267456.1:c.20744C>A (SYNE2) | XP_005267513.1:p.Thr6915Asn | |
| XM_005267457.1:c.20705C>A (SYNE2) | XP_005267514.1:p.Thr6902Asn | |
| XM_005267458.1:c.20678C>A (SYNE2) | XP_005267515.1:p.Thr6893Asn | |
| XM_005267459.1:c.20633C>A (SYNE2) | XP_005267516.1:p.Thr6878Asn | |
| XM_011536545.1:c.1406+9466G>T (ESR2) | XP_011534847.1:n.1406+9466G>T | |
| XM_011536574.1:c.20789C>A (SYNE2) | XP_011534876.1:p.Thr6930Asn | |
| XM_011536575.1:c.20789C>A (SYNE2) | XP_011534877.1:p.Thr6930Asn | |
| XM_011536576.1:c.20789C>A (SYNE2) | XP_011534878.1:p.Thr6930Asn | |
| XM_011536577.1:c.20789C>A (SYNE2) | XP_011534879.1:p.Thr6930Asn | |
| XM_011536578.1:c.20786C>A (SYNE2) | XP_011534880.1:p.Thr6929Asn | |
| XM_011536579.1:c.20747C>A (SYNE2) | XP_011534881.1:p.Thr6916Asn | |
| XM_011536580.1:c.20744C>A (SYNE2) | XP_011534882.1:p.Thr6915Asn | |
| XM_011536581.1:c.20720C>A (SYNE2) | XP_011534883.1:p.Thr6907Asn | |
| XM_011536582.1:c.20672C>A (SYNE2) | XP_011534884.1:p.Thr6891Asn | |
| XM_011536583.1:c.17594C>A (SYNE2) | XP_011534885.1:p.Thr5865Asn | |
| XM_011536575.2:c.20789C>A (SYNE2) | XP_011534877.1:p.Thr6930Asn | |
| XM_011536576.2:c.20789C>A (SYNE2) | XP_011534878.1:p.Thr6930Asn | |
| XM_011536577.2:c.20789C>A (SYNE2) | XP_011534879.1:p.Thr6930Asn | |
| XM_011536580.2:c.20744C>A (SYNE2) | XP_011534882.1:p.Thr6915Asn | |
| XM_017021101.1:c.20789C>A (SYNE2) | XP_016876590.1:p.Thr6930Asn | |
| XM_017021102.1:c.20720C>A (SYNE2) | XP_016876591.1:p.Thr6907Asn | |
| XM_017021103.2:c.2729C>A (SYNE2) | XP_016876592.1:p.Thr910Asn | |
| XM_017021104.2:c.2726C>A (SYNE2) | XP_016876593.1:p.Thr909Asn | |
| NM_015180.5:c.20636C>A (SYNE2) | NP_055995.4:p.Thr6879Asn | |
| NM_182913.3:c.1649C>A (SYNE2) | NP_878917.1:p.Thr550Asn | |
| NM_015180.6:c.20636C>A (SYNE2) | NP_055995.4:p.Thr6879Asn | |
| NM_182913.4:c.1649C>A (SYNE2) | NP_878917.1:p.Thr550Asn | |
| NM_182914.3:c.20702C>A (SYNE2) MANE Select | NP_878918.2:p.Thr6901Asn |