Linked Data
ClinVar Variation Id:
283668
dbSNP Id:
rs182985921
ExAC:
14:64675538 C / T
gnomAD v2:
14-64675538-C-T
gnomAD v3:
14-64208820-C-T
gnomAD v4:
14-64208820-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64208820C>T , CM000676.2:g.64208820C>T | GRCh38 |
| NC_000014.8:g.64675538C>T , CM000676.1:g.64675538C>T | GRCh37 |
| NC_000014.7:g.63745291C>T | NCBI36 |
| NG_011756.1:g.360856C>T | |
| NG_011756.2:g.451922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555002.6:c.18264C>T (SYNE2) MANE Select | ENSP00000450831.2:p.Asp6088= | |
| ENST00000344113.8:c.18264C>T (SYNE2) | ENSP00000341781.4:p.Asp6088= | |
| ENST00000357395.7:c.18168C>T (SYNE2) | ENSP00000349969.4:p.Asp6056= | |
| ENST00000358025.7:c.18264C>T (SYNE2) | ENSP00000350719.3:p.Asp6088= | |
| ENST00000394768.6:c.7419C>T (SYNE2) | ENSP00000378249.2:p.Asp2473= | |
| ENST00000553289.5:c.*139C>T (SYNE2) | ENSP00000451184.1:n.*139C>T | |
| ENST00000553801.1:n.384C>T (SYNE2) | ||
| ENST00000554584.5:c.18150C>T (SYNE2) | ENSP00000452570.1:p.Asp6050= | |
| ENST00000555002.5:c.8166C>T (SYNE2) | ENSP00000450831.1:p.Asp2722= | |
| ENST00000555022.5:c.-103C>T (SYNE2) | ENSP00000451009.1:n.-103C>T | |
| ENST00000555241.5:n.540C>T (SYNE2) | ||
| ENST00000555612.5:c.*43C>T (SYNE2) | ENSP00000451972.1:n.*43C>T | |
| ENST00000556275.5:c.1406+26150G>A (ESR2) | ENSP00000452485.2:n.1406+26150G>A | |
| ENST00000556906.5:c.174C>T (SYNE2) | ENSP00000452298.1:p.Asp58= | |
| NM_015180.4:c.18264C>T (SYNE2) | NP_055995.4:p.Asp6088= | |
| NM_182914.2:c.18264C>T (SYNE2) | NP_878918.2:p.Asp6088= | |
| XM_005267454.1:c.18264C>T (SYNE2) | XP_005267511.1:p.Asp6088= | |
| XM_005267456.1:c.18264C>T (SYNE2) | XP_005267513.1:p.Asp6088= | |
| XM_005267457.1:c.18264C>T (SYNE2) | XP_005267514.1:p.Asp6088= | |
| XM_005267458.1:c.18264C>T (SYNE2) | XP_005267515.1:p.Asp6088= | |
| XM_005267459.1:c.18264C>T (SYNE2) | XP_005267516.1:p.Asp6088= | |
| XM_011536545.1:c.1406+26150G>A (ESR2) | XP_011534847.1:n.1406+26150G>A | |
| XM_011536574.1:c.18264C>T (SYNE2) | XP_011534876.1:p.Asp6088= | |
| XM_011536575.1:c.18264C>T (SYNE2) | XP_011534877.1:p.Asp6088= | |
| XM_011536576.1:c.18264C>T (SYNE2) | XP_011534878.1:p.Asp6088= | |
| XM_011536577.1:c.18264C>T (SYNE2) | XP_011534879.1:p.Asp6088= | |
| XM_011536578.1:c.18264C>T (SYNE2) | XP_011534880.1:p.Asp6088= | |
| XM_011536579.1:c.18264C>T (SYNE2) | XP_011534881.1:p.Asp6088= | |
| XM_011536580.1:c.18264C>T (SYNE2) | XP_011534882.1:p.Asp6088= | |
| XM_011536581.1:c.18264C>T (SYNE2) | XP_011534883.1:p.Asp6088= | |
| XM_011536582.1:c.18147C>T (SYNE2) | XP_011534884.1:p.Asp6049= | |
| XM_011536583.1:c.15069C>T (SYNE2) | XP_011534885.1:p.Asp5023= | |
| XM_011536575.2:c.18264C>T (SYNE2) | XP_011534877.1:p.Asp6088= | |
| XM_011536576.2:c.18264C>T (SYNE2) | XP_011534878.1:p.Asp6088= | |
| XM_011536577.2:c.18264C>T (SYNE2) | XP_011534879.1:p.Asp6088= | |
| XM_011536580.2:c.18264C>T (SYNE2) | XP_011534882.1:p.Asp6088= | |
| XM_017021101.1:c.18264C>T (SYNE2) | XP_016876590.1:p.Asp6088= | |
| XM_017021102.1:c.18195C>T (SYNE2) | XP_016876591.1:p.Asp6065= | |
| XM_017021103.2:c.246C>T (SYNE2) | XP_016876592.1:p.Asp82= | |
| XM_017021104.2:c.246C>T (SYNE2) | XP_016876593.1:p.Asp82= | |
| NM_015180.5:c.18264C>T (SYNE2) | NP_055995.4:p.Asp6088= | |
| NM_015180.6:c.18264C>T (SYNE2) | NP_055995.4:p.Asp6088= | |
| NM_182914.3:c.18264C>T (SYNE2) MANE Select | NP_878918.2:p.Asp6088= |