Linked Data
ClinVar Variation Id:
287897
dbSNP Id:
rs199577239
ExAC:
14:64685209 G / A
gnomAD v2:
14-64685209-G-A
gnomAD v3:
14-64218491-G-A
gnomAD v4:
14-64218491-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64218491G>A , CM000676.2:g.64218491G>A | GRCh38 |
| NC_000014.8:g.64685209G>A , CM000676.1:g.64685209G>A | GRCh37 |
| NC_000014.7:g.63754962G>A | NCBI36 |
| NG_011756.1:g.370527G>A | |
| NG_011756.2:g.461593G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554805.6:n.1486G>A (SYNE2) | ||
| ENST00000555002.6:c.19636G>A (SYNE2) MANE Select | ENSP00000450831.2:p.Gly6546Ser | |
| ENST00000344113.8:c.19567G>A (SYNE2) | ENSP00000341781.4:p.Gly6523Ser | |
| ENST00000357395.7:c.19355-717G>A (SYNE2) | ENSP00000349969.4:n.19355-717G>A | |
| ENST00000358025.7:c.19636G>A (SYNE2) | ENSP00000350719.3:p.Gly6546Ser | |
| ENST00000394768.6:c.8722G>A (SYNE2) | ENSP00000378249.2:p.Gly2908Ser | |
| ENST00000441438.2:c.160G>A (SYNE2) | ENSP00000396794.2:p.Gly54Ser | |
| ENST00000458046.6:c.538G>A (SYNE2) | ENSP00000391937.2:p.Gly180Ser | |
| ENST00000553289.5:c.*1442G>A (SYNE2) | ENSP00000451184.1:n.*1442G>A | |
| ENST00000554584.5:c.19337-717G>A (SYNE2) | ENSP00000452570.1:n.19337-717G>A | |
| ENST00000554805.5:c.916G>A (SYNE2) | ENSP00000450605.1:p.Gly306Ser | |
| ENST00000554928.1:n.260G>A (SYNE2) | ||
| ENST00000555002.5:c.9538G>A (SYNE2) | ENSP00000450831.1:p.Gly3180Ser | |
| ENST00000555022.5:c.1201G>A (SYNE2) | ENSP00000451009.1:p.Gly401Ser | |
| ENST00000555612.5:c.*1346G>A (SYNE2) | ENSP00000451972.1:n.*1346G>A | |
| ENST00000556275.5:c.1406+16479C>T (ESR2) | ENSP00000452485.2:n.1406+16479C>T | |
| ENST00000557084.1:c.*378G>A (SYNE2) | ENSP00000450789.1:n.*378G>A | |
| NM_015180.4:c.19567G>A (SYNE2) | NP_055995.4:p.Gly6523Ser | |
| NM_182910.2:c.160G>A (SYNE2) | NP_878914.1:p.Gly54Ser | |
| NM_182913.2:c.538G>A (SYNE2) | NP_878917.1:p.Gly180Ser | |
| NM_182914.2:c.19636G>A (SYNE2) | NP_878918.2:p.Gly6546Ser | |
| XM_005267454.1:c.19636G>A (SYNE2) | XP_005267511.1:p.Gly6546Ser | |
| XM_005267456.1:c.19636G>A (SYNE2) | XP_005267513.1:p.Gly6546Ser | |
| XM_005267457.1:c.19636G>A (SYNE2) | XP_005267514.1:p.Gly6546Ser | |
| XM_005267458.1:c.19567G>A (SYNE2) | XP_005267515.1:p.Gly6523Ser | |
| XM_005267459.1:c.19567G>A (SYNE2) | XP_005267516.1:p.Gly6523Ser | |
| XM_011536545.1:c.1406+16479C>T (ESR2) | XP_011534847.1:n.1406+16479C>T | |
| XM_011536574.1:c.19636G>A (SYNE2) | XP_011534876.1:p.Gly6546Ser | |
| XM_011536575.1:c.19636G>A (SYNE2) | XP_011534877.1:p.Gly6546Ser | |
| XM_011536576.1:c.19636G>A (SYNE2) | XP_011534878.1:p.Gly6546Ser | |
| XM_011536577.1:c.19636G>A (SYNE2) | XP_011534879.1:p.Gly6546Ser | |
| XM_011536578.1:c.19636G>A (SYNE2) | XP_011534880.1:p.Gly6546Ser | |
| XM_011536579.1:c.19636G>A (SYNE2) | XP_011534881.1:p.Gly6546Ser | |
| XM_011536580.1:c.19636G>A (SYNE2) | XP_011534882.1:p.Gly6546Ser | |
| XM_011536581.1:c.19567G>A (SYNE2) | XP_011534883.1:p.Gly6523Ser | |
| XM_011536582.1:c.19519G>A (SYNE2) | XP_011534884.1:p.Gly6507Ser | |
| XM_011536583.1:c.16441G>A (SYNE2) | XP_011534885.1:p.Gly5481Ser | |
| XM_011536575.2:c.19636G>A (SYNE2) | XP_011534877.1:p.Gly6546Ser | |
| XM_011536576.2:c.19636G>A (SYNE2) | XP_011534878.1:p.Gly6546Ser | |
| XM_011536577.2:c.19636G>A (SYNE2) | XP_011534879.1:p.Gly6546Ser | |
| XM_011536580.2:c.19636G>A (SYNE2) | XP_011534882.1:p.Gly6546Ser | |
| XM_017021101.1:c.19636G>A (SYNE2) | XP_016876590.1:p.Gly6546Ser | |
| XM_017021102.1:c.19567G>A (SYNE2) | XP_016876591.1:p.Gly6523Ser | |
| XM_017021103.2:c.1618G>A (SYNE2) | XP_016876592.1:p.Gly540Ser | |
| XM_017021104.2:c.1618G>A (SYNE2) | XP_016876593.1:p.Gly540Ser | |
| NM_015180.5:c.19567G>A (SYNE2) | NP_055995.4:p.Gly6523Ser | |
| NM_182913.3:c.538G>A (SYNE2) | NP_878917.1:p.Gly180Ser | |
| NM_015180.6:c.19567G>A (SYNE2) | NP_055995.4:p.Gly6523Ser | |
| NM_182913.4:c.538G>A (SYNE2) | NP_878917.1:p.Gly180Ser | |
| NM_182914.3:c.19636G>A (SYNE2) MANE Select | NP_878918.2:p.Gly6546Ser |