Linked Data
ClinVar Variation Id:
282104
dbSNP Id:
rs150677837
ExAC:
14:64626154 A / G
gnomAD v2:
14-64626154-A-G
gnomAD v3:
14-64159436-A-G
gnomAD v4:
14-64159436-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64159436A>G , CM000676.2:g.64159436A>G | GRCh38 |
| NC_000014.8:g.64626154A>G , CM000676.1:g.64626154A>G | GRCh37 |
| NC_000014.7:g.63695907A>G | NCBI36 |
| NG_011756.1:g.311472A>G | |
| NG_011756.2:g.402538A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555002.6:c.16088A>G (SYNE2) MANE Select | ENSP00000450831.2:p.His5363Arg | |
| ENST00000344113.8:c.16088A>G (SYNE2) | ENSP00000341781.4:p.His5363Arg | |
| ENST00000357395.7:c.15857A>G (SYNE2) | ENSP00000349969.4:p.His5286Arg | |
| ENST00000358025.7:c.16088A>G (SYNE2) | ENSP00000350719.3:p.His5363Arg | |
| ENST00000394768.6:c.5243A>G (SYNE2) | ENSP00000378249.2:p.His1748Arg | |
| ENST00000554584.5:c.15839A>G (SYNE2) | ENSP00000452570.1:p.His5280Arg | |
| ENST00000555002.5:c.5990A>G (SYNE2) | ENSP00000450831.1:p.His1997Arg | |
| ENST00000555612.5:c.974A>G (SYNE2) | ENSP00000451972.1:p.His325Arg | |
| ENST00000556275.5:c.1407-74384T>C (ESR2) | ENSP00000452485.2:n.1407-74384T>C | |
| ENST00000557024.1:n.214A>G (SYNE2) | ||
| NM_015180.4:c.16088A>G (SYNE2) | NP_055995.4:p.His5363Arg | |
| NM_182914.2:c.16088A>G (SYNE2) | NP_878918.2:p.His5363Arg | |
| XM_005267454.1:c.16088A>G (SYNE2) | XP_005267511.1:p.His5363Arg | |
| XM_005267456.1:c.16088A>G (SYNE2) | XP_005267513.1:p.His5363Arg | |
| XM_005267457.1:c.16088A>G (SYNE2) | XP_005267514.1:p.His5363Arg | |
| XM_005267458.1:c.16088A>G (SYNE2) | XP_005267515.1:p.His5363Arg | |
| XM_005267459.1:c.16088A>G (SYNE2) | XP_005267516.1:p.His5363Arg | |
| XM_011536574.1:c.16088A>G (SYNE2) | XP_011534876.1:p.His5363Arg | |
| XM_011536575.1:c.16088A>G (SYNE2) | XP_011534877.1:p.His5363Arg | |
| XM_011536576.1:c.16088A>G (SYNE2) | XP_011534878.1:p.His5363Arg | |
| XM_011536577.1:c.16088A>G (SYNE2) | XP_011534879.1:p.His5363Arg | |
| XM_011536578.1:c.16088A>G (SYNE2) | XP_011534880.1:p.His5363Arg | |
| XM_011536579.1:c.16088A>G (SYNE2) | XP_011534881.1:p.His5363Arg | |
| XM_011536580.1:c.16088A>G (SYNE2) | XP_011534882.1:p.His5363Arg | |
| XM_011536581.1:c.16088A>G (SYNE2) | XP_011534883.1:p.His5363Arg | |
| XM_011536582.1:c.15971A>G (SYNE2) | XP_011534884.1:p.His5324Arg | |
| XM_011536583.1:c.12893A>G (SYNE2) | XP_011534885.1:p.His4298Arg | |
| XM_011536575.2:c.16088A>G (SYNE2) | XP_011534877.1:p.His5363Arg | |
| XM_011536576.2:c.16088A>G (SYNE2) | XP_011534878.1:p.His5363Arg | |
| XM_011536577.2:c.16088A>G (SYNE2) | XP_011534879.1:p.His5363Arg | |
| XM_011536580.2:c.16088A>G (SYNE2) | XP_011534882.1:p.His5363Arg | |
| XM_017021101.1:c.16088A>G (SYNE2) | XP_016876590.1:p.His5363Arg | |
| XM_017021102.1:c.16019A>G (SYNE2) | XP_016876591.1:p.His5340Arg | |
| NM_015180.5:c.16088A>G (SYNE2) | NP_055995.4:p.His5363Arg | |
| NM_015180.6:c.16088A>G (SYNE2) | NP_055995.4:p.His5363Arg | |
| NM_182914.3:c.16088A>G (SYNE2) MANE Select | NP_878918.2:p.His5363Arg |