Linked Data
ClinVar Variation Id:
313644
ClinVar RCV Id:
RCV000647568
dbSNP Id:
rs757232346
ExAC:
14:64679630 G / T
gnomAD v2:
14-64679630-G-T
gnomAD v3:
14-64212912-G-T
gnomAD v4:
14-64212912-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64212912G>T , CM000676.2:g.64212912G>T | GRCh38 |
| NC_000014.8:g.64679630G>T , CM000676.1:g.64679630G>T | GRCh37 |
| NC_000014.7:g.63749383G>T | NCBI36 |
| NG_011756.1:g.364948G>T | |
| NG_011756.2:g.456014G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554805.6:n.882G>T (SYNE2) | ||
| ENST00000555002.6:c.18963G>T (SYNE2) MANE Select | ENSP00000450831.2:p.Leu6321= | |
| ENST00000344113.8:c.18963G>T (SYNE2) | ENSP00000341781.4:p.Leu6321= | |
| ENST00000357395.7:c.18858G>T (SYNE2) | ENSP00000349969.4:p.Leu6286= | |
| ENST00000358025.7:c.18963G>T (SYNE2) | ENSP00000350719.3:p.Leu6321= | |
| ENST00000394768.6:c.8118G>T (SYNE2) | ENSP00000378249.2:p.Leu2706= | |
| ENST00000553289.5:c.*838G>T (SYNE2) | ENSP00000451184.1:n.*838G>T | |
| ENST00000553806.5:n.882G>T (SYNE2) | ||
| ENST00000554584.5:c.18840G>T (SYNE2) | ENSP00000452570.1:p.Leu6280= | |
| ENST00000554805.5:c.312G>T (SYNE2) | ENSP00000450605.1:p.Leu104= | |
| ENST00000555002.5:c.8865G>T (SYNE2) | ENSP00000450831.1:p.Leu2955= | |
| ENST00000555022.5:c.597G>T (SYNE2) | ENSP00000451009.1:p.Leu199= | |
| ENST00000555612.5:c.*742G>T (SYNE2) | ENSP00000451972.1:n.*742G>T | |
| ENST00000556275.5:c.1406+22058C>A (ESR2) | ENSP00000452485.2:n.1406+22058C>A | |
| ENST00000557307.1:n.102G>T (SYNE2) | ||
| NM_015180.4:c.18963G>T (SYNE2) | NP_055995.4:p.Leu6321= | |
| NM_182914.2:c.18963G>T (SYNE2) | NP_878918.2:p.Leu6321= | |
| XM_005267454.1:c.18963G>T (SYNE2) | XP_005267511.1:p.Leu6321= | |
| XM_005267456.1:c.18963G>T (SYNE2) | XP_005267513.1:p.Leu6321= | |
| XM_005267457.1:c.18963G>T (SYNE2) | XP_005267514.1:p.Leu6321= | |
| XM_005267458.1:c.18963G>T (SYNE2) | XP_005267515.1:p.Leu6321= | |
| XM_005267459.1:c.18963G>T (SYNE2) | XP_005267516.1:p.Leu6321= | |
| XM_011536545.1:c.1406+22058C>A (ESR2) | XP_011534847.1:n.1406+22058C>A | |
| XM_011536574.1:c.18963G>T (SYNE2) | XP_011534876.1:p.Leu6321= | |
| XM_011536575.1:c.18963G>T (SYNE2) | XP_011534877.1:p.Leu6321= | |
| XM_011536576.1:c.18963G>T (SYNE2) | XP_011534878.1:p.Leu6321= | |
| XM_011536577.1:c.18963G>T (SYNE2) | XP_011534879.1:p.Leu6321= | |
| XM_011536578.1:c.18963G>T (SYNE2) | XP_011534880.1:p.Leu6321= | |
| XM_011536579.1:c.18963G>T (SYNE2) | XP_011534881.1:p.Leu6321= | |
| XM_011536580.1:c.18963G>T (SYNE2) | XP_011534882.1:p.Leu6321= | |
| XM_011536581.1:c.18963G>T (SYNE2) | XP_011534883.1:p.Leu6321= | |
| XM_011536582.1:c.18846G>T (SYNE2) | XP_011534884.1:p.Leu6282= | |
| XM_011536583.1:c.15768G>T (SYNE2) | XP_011534885.1:p.Leu5256= | |
| XM_011536575.2:c.18963G>T (SYNE2) | XP_011534877.1:p.Leu6321= | |
| XM_011536576.2:c.18963G>T (SYNE2) | XP_011534878.1:p.Leu6321= | |
| XM_011536577.2:c.18963G>T (SYNE2) | XP_011534879.1:p.Leu6321= | |
| XM_011536580.2:c.18963G>T (SYNE2) | XP_011534882.1:p.Leu6321= | |
| XM_017021101.1:c.18963G>T (SYNE2) | XP_016876590.1:p.Leu6321= | |
| XM_017021102.1:c.18894G>T (SYNE2) | XP_016876591.1:p.Leu6298= | |
| XM_017021103.2:c.945G>T (SYNE2) | XP_016876592.1:p.Leu315= | |
| XM_017021104.2:c.945G>T (SYNE2) | XP_016876593.1:p.Leu315= | |
| NM_015180.5:c.18963G>T (SYNE2) | NP_055995.4:p.Leu6321= | |
| NM_015180.6:c.18963G>T (SYNE2) | NP_055995.4:p.Leu6321= | |
| NM_182914.3:c.18963G>T (SYNE2) MANE Select | NP_878918.2:p.Leu6321= |