Linked Data
ClinVar Variation Id:
313643
ClinVar RCV Id:
RCV000340536
dbSNP Id:
rs375497206
ExAC:
14:64676714 C / G
gnomAD v2:
14-64676714-C-G
gnomAD v3:
14-64209996-C-G
gnomAD v4:
14-64209996-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64209996C>G , CM000676.2:g.64209996C>G | GRCh38 |
| NC_000014.8:g.64676714C>G , CM000676.1:g.64676714C>G | GRCh37 |
| NC_000014.7:g.63746467C>G | NCBI36 |
| NG_011756.1:g.362032C>G | |
| NG_011756.2:g.453098C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554805.6:n.514C>G (SYNE2) | ||
| ENST00000555002.6:c.18595C>G (SYNE2) MANE Select | ENSP00000450831.2:p.Gln6199Glu | |
| ENST00000344113.8:c.18595C>G (SYNE2) | ENSP00000341781.4:p.Gln6199Glu | |
| ENST00000357395.7:c.18490C>G (SYNE2) | ENSP00000349969.4:p.Gln6164Glu | |
| ENST00000358025.7:c.18595C>G (SYNE2) | ENSP00000350719.3:p.Gln6199Glu | |
| ENST00000394768.6:c.7750C>G (SYNE2) | ENSP00000378249.2:p.Gln2584Glu | |
| ENST00000553289.5:c.*470C>G (SYNE2) | ENSP00000451184.1:n.*470C>G | |
| ENST00000553806.5:n.514C>G (SYNE2) | ||
| ENST00000554584.5:c.18472C>G (SYNE2) | ENSP00000452570.1:p.Gln6158Glu | |
| ENST00000554805.5:c.-57C>G (SYNE2) | ENSP00000450605.1:n.-57C>G | |
| ENST00000554997.1:n.389C>G (SYNE2) | ||
| ENST00000555002.5:c.8497C>G (SYNE2) | ENSP00000450831.1:p.Gln2833Glu | |
| ENST00000555022.5:c.229C>G (SYNE2) | ENSP00000451009.1:p.Gln77Glu | |
| ENST00000555612.5:c.*374C>G (SYNE2) | ENSP00000451972.1:n.*374C>G | |
| ENST00000556275.5:c.1406+24974G>C (ESR2) | ENSP00000452485.2:n.1406+24974G>C | |
| NM_015180.4:c.18595C>G (SYNE2) | NP_055995.4:p.Gln6199Glu | |
| NM_182914.2:c.18595C>G (SYNE2) | NP_878918.2:p.Gln6199Glu | |
| XM_005267454.1:c.18595C>G (SYNE2) | XP_005267511.1:p.Gln6199Glu | |
| XM_005267456.1:c.18595C>G (SYNE2) | XP_005267513.1:p.Gln6199Glu | |
| XM_005267457.1:c.18595C>G (SYNE2) | XP_005267514.1:p.Gln6199Glu | |
| XM_005267458.1:c.18595C>G (SYNE2) | XP_005267515.1:p.Gln6199Glu | |
| XM_005267459.1:c.18595C>G (SYNE2) | XP_005267516.1:p.Gln6199Glu | |
| XM_011536545.1:c.1406+24974G>C (ESR2) | XP_011534847.1:n.1406+24974G>C | |
| XM_011536574.1:c.18595C>G (SYNE2) | XP_011534876.1:p.Gln6199Glu | |
| XM_011536575.1:c.18595C>G (SYNE2) | XP_011534877.1:p.Gln6199Glu | |
| XM_011536576.1:c.18595C>G (SYNE2) | XP_011534878.1:p.Gln6199Glu | |
| XM_011536577.1:c.18595C>G (SYNE2) | XP_011534879.1:p.Gln6199Glu | |
| XM_011536578.1:c.18595C>G (SYNE2) | XP_011534880.1:p.Gln6199Glu | |
| XM_011536579.1:c.18595C>G (SYNE2) | XP_011534881.1:p.Gln6199Glu | |
| XM_011536580.1:c.18595C>G (SYNE2) | XP_011534882.1:p.Gln6199Glu | |
| XM_011536581.1:c.18595C>G (SYNE2) | XP_011534883.1:p.Gln6199Glu | |
| XM_011536582.1:c.18478C>G (SYNE2) | XP_011534884.1:p.Gln6160Glu | |
| XM_011536583.1:c.15400C>G (SYNE2) | XP_011534885.1:p.Gln5134Glu | |
| XM_011536575.2:c.18595C>G (SYNE2) | XP_011534877.1:p.Gln6199Glu | |
| XM_011536576.2:c.18595C>G (SYNE2) | XP_011534878.1:p.Gln6199Glu | |
| XM_011536577.2:c.18595C>G (SYNE2) | XP_011534879.1:p.Gln6199Glu | |
| XM_011536580.2:c.18595C>G (SYNE2) | XP_011534882.1:p.Gln6199Glu | |
| XM_017021101.1:c.18595C>G (SYNE2) | XP_016876590.1:p.Gln6199Glu | |
| XM_017021102.1:c.18526C>G (SYNE2) | XP_016876591.1:p.Gln6176Glu | |
| XM_017021103.2:c.577C>G (SYNE2) | XP_016876592.1:p.Gln193Glu | |
| XM_017021104.2:c.577C>G (SYNE2) | XP_016876593.1:p.Gln193Glu | |
| NM_015180.5:c.18595C>G (SYNE2) | NP_055995.4:p.Gln6199Glu | |
| NM_015180.6:c.18595C>G (SYNE2) | NP_055995.4:p.Gln6199Glu | |
| NM_182914.3:c.18595C>G (SYNE2) MANE Select | NP_878918.2:p.Gln6199Glu |