COSMIC:
COSN8864858 (not active)
COSN8864859 (not active)
COSN15655168 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87171674 (AFR)
Genomes Max Group AF
0.86336799 (AFR)
Exomes Max Group AF
0.87691083 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64214130A>G , CM000676.2:g.64214130A>G | GRCh38 |
| NC_000014.8:g.64680848A>G , CM000676.1:g.64680848A>G | GRCh37 |
| NC_000014.7:g.63750601A>G | NCBI36 |
| NG_011756.1:g.366166A>G | |
| NG_011756.2:g.457232A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554805.6:n.976-64A>G (SYNE2) | ||
| ENST00000555002.6:c.19057-64A>G (SYNE2) MANE Select | ENSP00000450831.2:n.19057-64A>G | |
| ENST00000344113.8:c.19057-64A>G (SYNE2) | ENSP00000341781.4:n.19057-64A>G | |
| ENST00000357395.7:c.18901-64A>G (SYNE2) | ENSP00000349969.4:n.18901-64A>G | |
| ENST00000358025.7:c.19057-64A>G (SYNE2) | ENSP00000350719.3:n.19057-64A>G | |
| ENST00000394768.6:c.8212-64A>G (SYNE2) | ENSP00000378249.2:n.8212-64A>G | |
| ENST00000553289.5:c.*932-64A>G (SYNE2) | ENSP00000451184.1:n.*932-64A>G | |
| ENST00000554584.5:c.18883-64A>G (SYNE2) | ENSP00000452570.1:n.18883-64A>G | |
| ENST00000554805.5:c.406-64A>G (SYNE2) | ENSP00000450605.1:n.406-64A>G | |
| ENST00000555002.5:c.8959-64A>G (SYNE2) | ENSP00000450831.1:n.8959-64A>G | |
| ENST00000555022.5:c.691-64A>G (SYNE2) | ENSP00000451009.1:n.691-64A>G | |
| ENST00000555612.5:c.*836-64A>G (SYNE2) | ENSP00000451972.1:n.*836-64A>G | |
| ENST00000556275.5:c.1406+20840T>C (ESR2) | ENSP00000452485.2:n.1406+20840T>C | |
| ENST00000557307.1:n.196-64A>G (SYNE2) | ||
| NM_015180.4:c.19057-64A>G (SYNE2) | NP_055995.4:n.19057-64A>G | |
| NM_182914.2:c.19057-64A>G (SYNE2) | NP_878918.2:n.19057-64A>G | |
| XM_005267454.1:c.19057-64A>G (SYNE2) | XP_005267511.1:n.19057-64A>G | |
| XM_005267456.1:c.19057-64A>G (SYNE2) | XP_005267513.1:n.19057-64A>G | |
| XM_005267457.1:c.19057-64A>G (SYNE2) | XP_005267514.1:n.19057-64A>G | |
| XM_005267458.1:c.19057-64A>G (SYNE2) | XP_005267515.1:n.19057-64A>G | |
| XM_005267459.1:c.19057-64A>G (SYNE2) | XP_005267516.1:n.19057-64A>G | |
| XM_011536545.1:c.1406+20840T>C (ESR2) | XP_011534847.1:n.1406+20840T>C | |
| XM_011536574.1:c.19057-64A>G (SYNE2) | XP_011534876.1:n.19057-64A>G | |
| XM_011536575.1:c.19057-64A>G (SYNE2) | XP_011534877.1:n.19057-64A>G | |
| XM_011536576.1:c.19057-64A>G (SYNE2) | XP_011534878.1:n.19057-64A>G | |
| XM_011536577.1:c.19057-64A>G (SYNE2) | XP_011534879.1:n.19057-64A>G | |
| XM_011536578.1:c.19057-64A>G (SYNE2) | XP_011534880.1:n.19057-64A>G | |
| XM_011536579.1:c.19057-64A>G (SYNE2) | XP_011534881.1:n.19057-64A>G | |
| XM_011536580.1:c.19057-64A>G (SYNE2) | XP_011534882.1:n.19057-64A>G | |
| XM_011536581.1:c.19057-64A>G (SYNE2) | XP_011534883.1:n.19057-64A>G | |
| XM_011536582.1:c.18940-64A>G (SYNE2) | XP_011534884.1:n.18940-64A>G | |
| XM_011536583.1:c.15862-64A>G (SYNE2) | XP_011534885.1:n.15862-64A>G | |
| XM_011536575.2:c.19057-64A>G (SYNE2) | XP_011534877.1:n.19057-64A>G | |
| XM_011536576.2:c.19057-64A>G (SYNE2) | XP_011534878.1:n.19057-64A>G | |
| XM_011536577.2:c.19057-64A>G (SYNE2) | XP_011534879.1:n.19057-64A>G | |
| XM_011536580.2:c.19057-64A>G (SYNE2) | XP_011534882.1:n.19057-64A>G | |
| XM_017021101.1:c.19057-64A>G (SYNE2) | XP_016876590.1:n.19057-64A>G | |
| XM_017021102.1:c.18988-64A>G (SYNE2) | XP_016876591.1:n.18988-64A>G | |
| XM_017021103.2:c.1039-64A>G (SYNE2) | XP_016876592.1:n.1039-64A>G | |
| XM_017021104.2:c.1039-64A>G (SYNE2) | XP_016876593.1:n.1039-64A>G | |
| NM_015180.5:c.19057-64A>G (SYNE2) | NP_055995.4:n.19057-64A>G | |
| NM_015180.6:c.19057-64A>G (SYNE2) | NP_055995.4:n.19057-64A>G | |
| NM_182914.3:c.19057-64A>G (SYNE2) MANE Select | NP_878918.2:n.19057-64A>G |