Linked Data
ClinVar Variation Id:
313602
dbSNP Id:
rs747348017
ExAC:
14:64608062 T / C
gnomAD v2:
14-64608062-T-C
gnomAD v3:
14-64141344-T-C
gnomAD v4:
14-64141344-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64141344T>C , CM000676.2:g.64141344T>C | GRCh38 |
| NC_000014.8:g.64608062T>C , CM000676.1:g.64608062T>C | GRCh37 |
| NC_000014.7:g.63677815T>C | NCBI36 |
| NG_011756.1:g.293380T>C | |
| NG_011756.2:g.384446T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555002.6:c.14980T>C (SYNE2) MANE Select | ENSP00000450831.2:p.Phe4994Leu | |
| ENST00000344113.8:c.14980T>C (SYNE2) | ENSP00000341781.4:p.Phe4994Leu | |
| ENST00000357395.7:c.14749T>C (SYNE2) | ENSP00000349969.4:p.Phe4917Leu | |
| ENST00000358025.7:c.14980T>C (SYNE2) | ENSP00000350719.3:p.Phe4994Leu | |
| ENST00000394768.6:c.4135T>C (SYNE2) | ENSP00000378249.2:p.Phe1379Leu | |
| ENST00000554584.5:c.14731T>C (SYNE2) | ENSP00000452570.1:p.Phe4911Leu | |
| ENST00000555002.5:c.4882T>C (SYNE2) | ENSP00000450831.1:p.Phe1628Leu | |
| ENST00000556275.5:c.1407-56292A>G (ESR2) | ENSP00000452485.2:n.1407-56292A>G | |
| NM_015180.4:c.14980T>C (SYNE2) | NP_055995.4:p.Phe4994Leu | |
| NM_182914.2:c.14980T>C (SYNE2) | NP_878918.2:p.Phe4994Leu | |
| XM_005267454.1:c.14980T>C (SYNE2) | XP_005267511.1:p.Phe4994Leu | |
| XM_005267456.1:c.14980T>C (SYNE2) | XP_005267513.1:p.Phe4994Leu | |
| XM_005267457.1:c.14980T>C (SYNE2) | XP_005267514.1:p.Phe4994Leu | |
| XM_005267458.1:c.14980T>C (SYNE2) | XP_005267515.1:p.Phe4994Leu | |
| XM_005267459.1:c.14980T>C (SYNE2) | XP_005267516.1:p.Phe4994Leu | |
| XM_011536574.1:c.14980T>C (SYNE2) | XP_011534876.1:p.Phe4994Leu | |
| XM_011536575.1:c.14980T>C (SYNE2) | XP_011534877.1:p.Phe4994Leu | |
| XM_011536576.1:c.14980T>C (SYNE2) | XP_011534878.1:p.Phe4994Leu | |
| XM_011536577.1:c.14980T>C (SYNE2) | XP_011534879.1:p.Phe4994Leu | |
| XM_011536578.1:c.14980T>C (SYNE2) | XP_011534880.1:p.Phe4994Leu | |
| XM_011536579.1:c.14980T>C (SYNE2) | XP_011534881.1:p.Phe4994Leu | |
| XM_011536580.1:c.14980T>C (SYNE2) | XP_011534882.1:p.Phe4994Leu | |
| XM_011536581.1:c.14980T>C (SYNE2) | XP_011534883.1:p.Phe4994Leu | |
| XM_011536582.1:c.14863T>C (SYNE2) | XP_011534884.1:p.Phe4955Leu | |
| XM_011536583.1:c.11785T>C (SYNE2) | XP_011534885.1:p.Phe3929Leu | |
| XM_011536575.2:c.14980T>C (SYNE2) | XP_011534877.1:p.Phe4994Leu | |
| XM_011536576.2:c.14980T>C (SYNE2) | XP_011534878.1:p.Phe4994Leu | |
| XM_011536577.2:c.14980T>C (SYNE2) | XP_011534879.1:p.Phe4994Leu | |
| XM_011536580.2:c.14980T>C (SYNE2) | XP_011534882.1:p.Phe4994Leu | |
| XM_017021101.1:c.14980T>C (SYNE2) | XP_016876590.1:p.Phe4994Leu | |
| XM_017021102.1:c.14911T>C (SYNE2) | XP_016876591.1:p.Phe4971Leu | |
| NM_015180.5:c.14980T>C (SYNE2) | NP_055995.4:p.Phe4994Leu | |
| NM_015180.6:c.14980T>C (SYNE2) | NP_055995.4:p.Phe4994Leu | |
| NM_182914.3:c.14980T>C (SYNE2) MANE Select | NP_878918.2:p.Phe4994Leu |