ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00155124 (AFR)
Genomes Max Group AF
0.00130195 (AFR)
Exomes Max Group AF
0.00164297 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64139933C>G , CM000676.2:g.64139933C>G | GRCh38 |
| NC_000014.8:g.64606651C>G , CM000676.1:g.64606651C>G | GRCh37 |
| NC_000014.7:g.63676404C>G | NCBI36 |
| NG_011756.1:g.291969C>G | |
| NG_011756.2:g.383035C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555002.6:c.14844-8C>G (SYNE2) MANE Select | ENSP00000450831.2:n.14844-8C>G | |
| ENST00000344113.8:c.14844-8C>G (SYNE2) | ENSP00000341781.4:n.14844-8C>G | |
| ENST00000357395.7:c.14613-8C>G (SYNE2) | ENSP00000349969.4:n.14613-8C>G | |
| ENST00000358025.7:c.14844-8C>G (SYNE2) | ENSP00000350719.3:n.14844-8C>G | |
| ENST00000394768.6:c.3999-8C>G (SYNE2) | ENSP00000378249.2:n.3999-8C>G | |
| ENST00000554584.5:c.14595-8C>G (SYNE2) | ENSP00000452570.1:n.14595-8C>G | |
| ENST00000555002.5:c.4746-8C>G (SYNE2) | ENSP00000450831.1:n.4746-8C>G | |
| ENST00000556275.5:c.1407-54881G>C (ESR2) | ENSP00000452485.2:n.1407-54881G>C | |
| NM_015180.4:c.14844-8C>G (SYNE2) | NP_055995.4:n.14844-8C>G | |
| NM_182914.2:c.14844-8C>G (SYNE2) | NP_878918.2:n.14844-8C>G | |
| XM_005267454.1:c.14844-8C>G (SYNE2) | XP_005267511.1:n.14844-8C>G | |
| XM_005267456.1:c.14844-8C>G (SYNE2) | XP_005267513.1:n.14844-8C>G | |
| XM_005267457.1:c.14844-8C>G (SYNE2) | XP_005267514.1:n.14844-8C>G | |
| XM_005267458.1:c.14844-8C>G (SYNE2) | XP_005267515.1:n.14844-8C>G | |
| XM_005267459.1:c.14844-8C>G (SYNE2) | XP_005267516.1:n.14844-8C>G | |
| XM_011536574.1:c.14844-8C>G (SYNE2) | XP_011534876.1:n.14844-8C>G | |
| XM_011536575.1:c.14844-8C>G (SYNE2) | XP_011534877.1:n.14844-8C>G | |
| XM_011536576.1:c.14844-8C>G (SYNE2) | XP_011534878.1:n.14844-8C>G | |
| XM_011536577.1:c.14844-8C>G (SYNE2) | XP_011534879.1:n.14844-8C>G | |
| XM_011536578.1:c.14844-8C>G (SYNE2) | XP_011534880.1:n.14844-8C>G | |
| XM_011536579.1:c.14844-8C>G (SYNE2) | XP_011534881.1:n.14844-8C>G | |
| XM_011536580.1:c.14844-8C>G (SYNE2) | XP_011534882.1:n.14844-8C>G | |
| XM_011536581.1:c.14844-8C>G (SYNE2) | XP_011534883.1:n.14844-8C>G | |
| XM_011536582.1:c.14727-8C>G (SYNE2) | XP_011534884.1:n.14727-8C>G | |
| XM_011536583.1:c.11649-8C>G (SYNE2) | XP_011534885.1:n.11649-8C>G | |
| XM_011536575.2:c.14844-8C>G (SYNE2) | XP_011534877.1:n.14844-8C>G | |
| XM_011536576.2:c.14844-8C>G (SYNE2) | XP_011534878.1:n.14844-8C>G | |
| XM_011536577.2:c.14844-8C>G (SYNE2) | XP_011534879.1:n.14844-8C>G | |
| XM_011536580.2:c.14844-8C>G (SYNE2) | XP_011534882.1:n.14844-8C>G | |
| XM_017021101.1:c.14844-8C>G (SYNE2) | XP_016876590.1:n.14844-8C>G | |
| XM_017021102.1:c.14775-8C>G (SYNE2) | XP_016876591.1:n.14775-8C>G | |
| NM_015180.5:c.14844-8C>G (SYNE2) | NP_055995.4:n.14844-8C>G | |
| NM_015180.6:c.14844-8C>G (SYNE2) | NP_055995.4:n.14844-8C>G | |
| NM_182914.3:c.14844-8C>G (SYNE2) MANE Select | NP_878918.2:n.14844-8C>G |