Linked Data
ClinVar Variation Id:
313651
ClinVar RCV Id:
RCV000799529
dbSNP Id:
rs202052357
ExAC:
14:64683004 G / C
gnomAD v2:
14-64683004-G-C
gnomAD v3:
14-64216286-G-C
gnomAD v4:
14-64216286-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64216286G>C , CM000676.2:g.64216286G>C | GRCh38 |
| NC_000014.8:g.64683004G>C , CM000676.1:g.64683004G>C | GRCh37 |
| NC_000014.7:g.63752757G>C | NCBI36 |
| NG_011756.1:g.368322G>C | |
| NG_011756.2:g.459388G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554805.6:n.1291G>C (SYNE2) | ||
| ENST00000555002.6:c.19441G>C (SYNE2) MANE Select | ENSP00000450831.2:p.Asp6481His | |
| ENST00000344113.8:c.19372G>C (SYNE2) | ENSP00000341781.4:p.Asp6458His | |
| ENST00000357395.7:c.19216G>C (SYNE2) | ENSP00000349969.4:p.Asp6406His | |
| ENST00000358025.7:c.19441G>C (SYNE2) | ENSP00000350719.3:p.Asp6481His | |
| ENST00000394768.6:c.8527G>C (SYNE2) | ENSP00000378249.2:p.Asp2843His | |
| ENST00000441438.2:c.-36G>C (SYNE2) | ENSP00000396794.2:n.-36G>C | |
| ENST00000458046.6:c.343G>C (SYNE2) | ENSP00000391937.2:p.Asp115His | |
| ENST00000553289.5:c.*1247G>C (SYNE2) | ENSP00000451184.1:n.*1247G>C | |
| ENST00000554584.5:c.19198G>C (SYNE2) | ENSP00000452570.1:p.Asp6400His | |
| ENST00000554805.5:c.721G>C (SYNE2) | ENSP00000450605.1:p.Asp241His | |
| ENST00000555002.5:c.9343G>C (SYNE2) | ENSP00000450831.1:p.Asp3115His | |
| ENST00000555022.5:c.1006G>C (SYNE2) | ENSP00000451009.1:p.Asp336His | |
| ENST00000555612.5:c.*1151G>C (SYNE2) | ENSP00000451972.1:n.*1151G>C | |
| ENST00000556275.5:c.1406+18684C>G (ESR2) | ENSP00000452485.2:n.1406+18684C>G | |
| ENST00000557084.1:c.*183G>C (SYNE2) | ENSP00000450789.1:n.*183G>C | |
| NM_015180.4:c.19372G>C (SYNE2) | NP_055995.4:p.Asp6458His | |
| NM_182910.2:c.-36G>C (SYNE2) | NP_878914.1:n.-36G>C | |
| NM_182913.2:c.343G>C (SYNE2) | NP_878917.1:p.Asp115His | |
| NM_182914.2:c.19441G>C (SYNE2) | NP_878918.2:p.Asp6481His | |
| XM_005267454.1:c.19441G>C (SYNE2) | XP_005267511.1:p.Asp6481His | |
| XM_005267456.1:c.19441G>C (SYNE2) | XP_005267513.1:p.Asp6481His | |
| XM_005267457.1:c.19441G>C (SYNE2) | XP_005267514.1:p.Asp6481His | |
| XM_005267458.1:c.19372G>C (SYNE2) | XP_005267515.1:p.Asp6458His | |
| XM_005267459.1:c.19372G>C (SYNE2) | XP_005267516.1:p.Asp6458His | |
| XM_011536545.1:c.1406+18684C>G (ESR2) | XP_011534847.1:n.1406+18684C>G | |
| XM_011536574.1:c.19441G>C (SYNE2) | XP_011534876.1:p.Asp6481His | |
| XM_011536575.1:c.19441G>C (SYNE2) | XP_011534877.1:p.Asp6481His | |
| XM_011536576.1:c.19441G>C (SYNE2) | XP_011534878.1:p.Asp6481His | |
| XM_011536577.1:c.19441G>C (SYNE2) | XP_011534879.1:p.Asp6481His | |
| XM_011536578.1:c.19441G>C (SYNE2) | XP_011534880.1:p.Asp6481His | |
| XM_011536579.1:c.19441G>C (SYNE2) | XP_011534881.1:p.Asp6481His | |
| XM_011536580.1:c.19441G>C (SYNE2) | XP_011534882.1:p.Asp6481His | |
| XM_011536581.1:c.19372G>C (SYNE2) | XP_011534883.1:p.Asp6458His | |
| XM_011536582.1:c.19324G>C (SYNE2) | XP_011534884.1:p.Asp6442His | |
| XM_011536583.1:c.16246G>C (SYNE2) | XP_011534885.1:p.Asp5416His | |
| XM_011536575.2:c.19441G>C (SYNE2) | XP_011534877.1:p.Asp6481His | |
| XM_011536576.2:c.19441G>C (SYNE2) | XP_011534878.1:p.Asp6481His | |
| XM_011536577.2:c.19441G>C (SYNE2) | XP_011534879.1:p.Asp6481His | |
| XM_011536580.2:c.19441G>C (SYNE2) | XP_011534882.1:p.Asp6481His | |
| XM_017021101.1:c.19441G>C (SYNE2) | XP_016876590.1:p.Asp6481His | |
| XM_017021102.1:c.19372G>C (SYNE2) | XP_016876591.1:p.Asp6458His | |
| XM_017021103.2:c.1423G>C (SYNE2) | XP_016876592.1:p.Asp475His | |
| XM_017021104.2:c.1423G>C (SYNE2) | XP_016876593.1:p.Asp475His | |
| NM_015180.5:c.19372G>C (SYNE2) | NP_055995.4:p.Asp6458His | |
| NM_182913.3:c.343G>C (SYNE2) | NP_878917.1:p.Asp115His | |
| NM_015180.6:c.19372G>C (SYNE2) | NP_055995.4:p.Asp6458His | |
| NM_182913.4:c.343G>C (SYNE2) | NP_878917.1:p.Asp115His | |
| NM_182914.3:c.19441G>C (SYNE2) MANE Select | NP_878918.2:p.Asp6481His |