Linked Data
ClinVar Variation Id:
313582
ClinVar RCV Id:
RCV000263237
dbSNP Id:
rs762957203
ExAC:
14:64586246 G / A
gnomAD v2:
14-64586246-G-A
gnomAD v3:
14-64119528-G-A
gnomAD v4:
14-64119528-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64119528G>A , CM000676.2:g.64119528G>A | GRCh38 |
| NC_000014.8:g.64586246G>A , CM000676.1:g.64586246G>A | GRCh37 |
| NC_000014.7:g.63655999G>A | NCBI36 |
| NG_011756.1:g.271564G>A | |
| NG_011756.2:g.362630G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555002.6:c.12942G>A (SYNE2) MANE Select | ENSP00000450831.2:p.Ala4314= | |
| ENST00000673797.1:c.345G>A (SYNE2) | ENSP00000501238.1:p.Ala115= | |
| ENST00000673869.1:c.345G>A (SYNE2) | ENSP00000501077.1:p.Ala115= | |
| ENST00000344113.8:c.12942G>A (SYNE2) | ENSP00000341781.4:p.Ala4314= | |
| ENST00000357395.7:c.12987G>A (SYNE2) | ENSP00000349969.4:p.Ala4329= | |
| ENST00000358025.7:c.12942G>A (SYNE2) | ENSP00000350719.3:p.Ala4314= | |
| ENST00000394768.6:c.2097G>A (SYNE2) | ENSP00000378249.2:p.Ala699= | |
| ENST00000553455.1:c.99G>A (SYNE2) | ENSP00000452434.1:p.Ala33= | |
| ENST00000554584.5:c.12987G>A (SYNE2) | ENSP00000452570.1:p.Ala4329= | |
| ENST00000555002.5:c.2844G>A (SYNE2) | ENSP00000450831.1:p.Ala948= | |
| ENST00000556275.5:c.1407-34476C>T (ESR2) | ENSP00000452485.2:n.1407-34476C>T | |
| NM_015180.4:c.12942G>A (SYNE2) | NP_055995.4:p.Ala4314= | |
| NM_182914.2:c.12942G>A (SYNE2) | NP_878918.2:p.Ala4314= | |
| XM_005267454.1:c.12942G>A (SYNE2) | XP_005267511.1:p.Ala4314= | |
| XM_005267456.1:c.12942G>A (SYNE2) | XP_005267513.1:p.Ala4314= | |
| XM_005267457.1:c.12942G>A (SYNE2) | XP_005267514.1:p.Ala4314= | |
| XM_005267458.1:c.12942G>A (SYNE2) | XP_005267515.1:p.Ala4314= | |
| XM_005267459.1:c.12942G>A (SYNE2) | XP_005267516.1:p.Ala4314= | |
| XM_006720084.2:c.12942G>A (SYNE2) | XP_006720147.1:p.Ala4314= | |
| XM_011536574.1:c.12942G>A (SYNE2) | XP_011534876.1:p.Ala4314= | |
| XM_011536575.1:c.12942G>A (SYNE2) | XP_011534877.1:p.Ala4314= | |
| XM_011536576.1:c.12942G>A (SYNE2) | XP_011534878.1:p.Ala4314= | |
| XM_011536577.1:c.12942G>A (SYNE2) | XP_011534879.1:p.Ala4314= | |
| XM_011536578.1:c.12942G>A (SYNE2) | XP_011534880.1:p.Ala4314= | |
| XM_011536579.1:c.12942G>A (SYNE2) | XP_011534881.1:p.Ala4314= | |
| XM_011536580.1:c.12942G>A (SYNE2) | XP_011534882.1:p.Ala4314= | |
| XM_011536581.1:c.12942G>A (SYNE2) | XP_011534883.1:p.Ala4314= | |
| XM_011536582.1:c.12825G>A (SYNE2) | XP_011534884.1:p.Ala4275= | |
| XM_011536583.1:c.9747G>A (SYNE2) | XP_011534885.1:p.Ala3249= | |
| XM_011536575.2:c.12942G>A (SYNE2) | XP_011534877.1:p.Ala4314= | |
| XM_011536576.2:c.12942G>A (SYNE2) | XP_011534878.1:p.Ala4314= | |
| XM_011536577.2:c.12942G>A (SYNE2) | XP_011534879.1:p.Ala4314= | |
| XM_011536580.2:c.12942G>A (SYNE2) | XP_011534882.1:p.Ala4314= | |
| XM_017021101.1:c.12942G>A (SYNE2) | XP_016876590.1:p.Ala4314= | |
| XM_017021102.1:c.12873G>A (SYNE2) | XP_016876591.1:p.Ala4291= | |
| XR_001750198.1:n.13172G>A (SYNE2) | ||
| NM_015180.5:c.12942G>A (SYNE2) | NP_055995.4:p.Ala4314= | |
| NM_015180.6:c.12942G>A (SYNE2) | NP_055995.4:p.Ala4314= | |
| NM_182914.3:c.12942G>A (SYNE2) MANE Select | NP_878918.2:p.Ala4314= |