Linked Data
ClinVar Variation Id:
313638
ClinVar RCV Id:
RCV000792210
dbSNP Id:
rs149128439
ExAC:
14:64675506 G / A
gnomAD v2:
14-64675506-G-A
gnomAD v3:
14-64208788-G-A
gnomAD v4:
14-64208788-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64208788G>A , CM000676.2:g.64208788G>A | GRCh38 |
| NC_000014.8:g.64675506G>A , CM000676.1:g.64675506G>A | GRCh37 |
| NC_000014.7:g.63745259G>A | NCBI36 |
| NG_011756.1:g.360824G>A | |
| NG_011756.2:g.451890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555002.6:c.18232G>A (SYNE2) MANE Select | ENSP00000450831.2:p.Ala6078Thr | |
| ENST00000344113.8:c.18232G>A (SYNE2) | ENSP00000341781.4:p.Ala6078Thr | |
| ENST00000357395.7:c.18136G>A (SYNE2) | ENSP00000349969.4:p.Ala6046Thr | |
| ENST00000358025.7:c.18232G>A (SYNE2) | ENSP00000350719.3:p.Ala6078Thr | |
| ENST00000394768.6:c.7387G>A (SYNE2) | ENSP00000378249.2:p.Ala2463Thr | |
| ENST00000553289.5:c.*107G>A (SYNE2) | ENSP00000451184.1:n.*107G>A | |
| ENST00000553801.1:n.352G>A (SYNE2) | ||
| ENST00000554584.5:c.18118G>A (SYNE2) | ENSP00000452570.1:p.Ala6040Thr | |
| ENST00000555002.5:c.8134G>A (SYNE2) | ENSP00000450831.1:p.Ala2712Thr | |
| ENST00000555022.5:c.-135G>A (SYNE2) | ENSP00000451009.1:n.-135G>A | |
| ENST00000555241.5:n.508G>A (SYNE2) | ||
| ENST00000555612.5:c.*11G>A (SYNE2) | ENSP00000451972.1:n.*11G>A | |
| ENST00000556275.5:c.1406+26182C>T (ESR2) | ENSP00000452485.2:n.1406+26182C>T | |
| ENST00000556906.5:c.142G>A (SYNE2) | ENSP00000452298.1:p.Ala48Thr | |
| NM_015180.4:c.18232G>A (SYNE2) | NP_055995.4:p.Ala6078Thr | |
| NM_182914.2:c.18232G>A (SYNE2) | NP_878918.2:p.Ala6078Thr | |
| XM_005267454.1:c.18232G>A (SYNE2) | XP_005267511.1:p.Ala6078Thr | |
| XM_005267456.1:c.18232G>A (SYNE2) | XP_005267513.1:p.Ala6078Thr | |
| XM_005267457.1:c.18232G>A (SYNE2) | XP_005267514.1:p.Ala6078Thr | |
| XM_005267458.1:c.18232G>A (SYNE2) | XP_005267515.1:p.Ala6078Thr | |
| XM_005267459.1:c.18232G>A (SYNE2) | XP_005267516.1:p.Ala6078Thr | |
| XM_011536545.1:c.1406+26182C>T (ESR2) | XP_011534847.1:n.1406+26182C>T | |
| XM_011536574.1:c.18232G>A (SYNE2) | XP_011534876.1:p.Ala6078Thr | |
| XM_011536575.1:c.18232G>A (SYNE2) | XP_011534877.1:p.Ala6078Thr | |
| XM_011536576.1:c.18232G>A (SYNE2) | XP_011534878.1:p.Ala6078Thr | |
| XM_011536577.1:c.18232G>A (SYNE2) | XP_011534879.1:p.Ala6078Thr | |
| XM_011536578.1:c.18232G>A (SYNE2) | XP_011534880.1:p.Ala6078Thr | |
| XM_011536579.1:c.18232G>A (SYNE2) | XP_011534881.1:p.Ala6078Thr | |
| XM_011536580.1:c.18232G>A (SYNE2) | XP_011534882.1:p.Ala6078Thr | |
| XM_011536581.1:c.18232G>A (SYNE2) | XP_011534883.1:p.Ala6078Thr | |
| XM_011536582.1:c.18115G>A (SYNE2) | XP_011534884.1:p.Ala6039Thr | |
| XM_011536583.1:c.15037G>A (SYNE2) | XP_011534885.1:p.Ala5013Thr | |
| XM_011536575.2:c.18232G>A (SYNE2) | XP_011534877.1:p.Ala6078Thr | |
| XM_011536576.2:c.18232G>A (SYNE2) | XP_011534878.1:p.Ala6078Thr | |
| XM_011536577.2:c.18232G>A (SYNE2) | XP_011534879.1:p.Ala6078Thr | |
| XM_011536580.2:c.18232G>A (SYNE2) | XP_011534882.1:p.Ala6078Thr | |
| XM_017021101.1:c.18232G>A (SYNE2) | XP_016876590.1:p.Ala6078Thr | |
| XM_017021102.1:c.18163G>A (SYNE2) | XP_016876591.1:p.Ala6055Thr | |
| XM_017021103.2:c.214G>A (SYNE2) | XP_016876592.1:p.Ala72Thr | |
| XM_017021104.2:c.214G>A (SYNE2) | XP_016876593.1:p.Ala72Thr | |
| NM_015180.5:c.18232G>A (SYNE2) | NP_055995.4:p.Ala6078Thr | |
| NM_015180.6:c.18232G>A (SYNE2) | NP_055995.4:p.Ala6078Thr | |
| NM_182914.3:c.18232G>A (SYNE2) MANE Select | NP_878918.2:p.Ala6078Thr |