Linked Data
ClinVar Variation Id:
313599
ClinVar RCV Id:
RCV000699514
dbSNP Id:
rs373034895
ExAC:
14:64596851 C / T
gnomAD v2:
14-64596851-C-T
gnomAD v3:
14-64130133-C-T
gnomAD v4:
14-64130133-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64130133C>T , CM000676.2:g.64130133C>T | GRCh38 |
| NC_000014.8:g.64596851C>T , CM000676.1:g.64596851C>T | GRCh37 |
| NC_000014.7:g.63666604C>T | NCBI36 |
| NG_011756.1:g.282169C>T | |
| NG_011756.2:g.373235C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555002.6:c.14225C>T (SYNE2) MANE Select | ENSP00000450831.2:p.Ala4742Val | |
| ENST00000673797.1:c.1628C>T (SYNE2) | ENSP00000501238.1:p.Ala543Val | |
| ENST00000344113.8:c.14225C>T (SYNE2) | ENSP00000341781.4:p.Ala4742Val | |
| ENST00000357395.7:c.13976C>T (SYNE2) | ENSP00000349969.4:p.Ala4659Val | |
| ENST00000358025.7:c.14225C>T (SYNE2) | ENSP00000350719.3:p.Ala4742Val | |
| ENST00000394768.6:c.3380C>T (SYNE2) | ENSP00000378249.2:p.Ala1127Val | |
| ENST00000554584.5:c.13976C>T (SYNE2) | ENSP00000452570.1:p.Ala4659Val | |
| ENST00000555002.5:c.4127C>T (SYNE2) | ENSP00000450831.1:p.Ala1376Val | |
| ENST00000556275.5:c.1407-45081G>A (ESR2) | ENSP00000452485.2:n.1407-45081G>A | |
| NM_015180.4:c.14225C>T (SYNE2) | NP_055995.4:p.Ala4742Val | |
| NM_182914.2:c.14225C>T (SYNE2) | NP_878918.2:p.Ala4742Val | |
| XM_005267454.1:c.14225C>T (SYNE2) | XP_005267511.1:p.Ala4742Val | |
| XM_005267456.1:c.14225C>T (SYNE2) | XP_005267513.1:p.Ala4742Val | |
| XM_005267457.1:c.14225C>T (SYNE2) | XP_005267514.1:p.Ala4742Val | |
| XM_005267458.1:c.14225C>T (SYNE2) | XP_005267515.1:p.Ala4742Val | |
| XM_005267459.1:c.14225C>T (SYNE2) | XP_005267516.1:p.Ala4742Val | |
| XM_006720084.2:c.14225C>T (SYNE2) | XP_006720147.1:p.Ala4742Val | |
| XM_011536574.1:c.14225C>T (SYNE2) | XP_011534876.1:p.Ala4742Val | |
| XM_011536575.1:c.14225C>T (SYNE2) | XP_011534877.1:p.Ala4742Val | |
| XM_011536576.1:c.14225C>T (SYNE2) | XP_011534878.1:p.Ala4742Val | |
| XM_011536577.1:c.14225C>T (SYNE2) | XP_011534879.1:p.Ala4742Val | |
| XM_011536578.1:c.14225C>T (SYNE2) | XP_011534880.1:p.Ala4742Val | |
| XM_011536579.1:c.14225C>T (SYNE2) | XP_011534881.1:p.Ala4742Val | |
| XM_011536580.1:c.14225C>T (SYNE2) | XP_011534882.1:p.Ala4742Val | |
| XM_011536581.1:c.14225C>T (SYNE2) | XP_011534883.1:p.Ala4742Val | |
| XM_011536582.1:c.14108C>T (SYNE2) | XP_011534884.1:p.Ala4703Val | |
| XM_011536583.1:c.11030C>T (SYNE2) | XP_011534885.1:p.Ala3677Val | |
| XM_011536575.2:c.14225C>T (SYNE2) | XP_011534877.1:p.Ala4742Val | |
| XM_011536576.2:c.14225C>T (SYNE2) | XP_011534878.1:p.Ala4742Val | |
| XM_011536577.2:c.14225C>T (SYNE2) | XP_011534879.1:p.Ala4742Val | |
| XM_011536580.2:c.14225C>T (SYNE2) | XP_011534882.1:p.Ala4742Val | |
| XM_017021101.1:c.14225C>T (SYNE2) | XP_016876590.1:p.Ala4742Val | |
| XM_017021102.1:c.14156C>T (SYNE2) | XP_016876591.1:p.Ala4719Val | |
| XR_001750198.1:n.14455C>T (SYNE2) | ||
| NM_015180.5:c.14225C>T (SYNE2) | NP_055995.4:p.Ala4742Val | |
| NM_015180.6:c.14225C>T (SYNE2) | NP_055995.4:p.Ala4742Val | |
| NM_182914.3:c.14225C>T (SYNE2) MANE Select | NP_878918.2:p.Ala4742Val |