Linked Data
ClinVar Variation Id:
313631
ClinVar RCV Id:
RCV000354266
dbSNP Id:
rs143784708
ExAC:
14:64644089 G / A
gnomAD v2:
14-64644089-G-A
gnomAD v3:
14-64177371-G-A
gnomAD v4:
14-64177371-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64177371G>A , CM000676.2:g.64177371G>A | GRCh38 |
| NC_000014.8:g.64644089G>A , CM000676.1:g.64644089G>A | GRCh37 |
| NC_000014.7:g.63713842G>A | NCBI36 |
| NG_011756.1:g.329407G>A | |
| NG_011756.2:g.420473G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555002.6:c.17444G>A (SYNE2) MANE Select | ENSP00000450831.2:p.Cys5815Tyr | |
| ENST00000344113.8:c.17444G>A (SYNE2) | ENSP00000341781.4:p.Cys5815Tyr | |
| ENST00000357395.7:c.17057G>A (SYNE2) | ENSP00000349969.4:p.Cys5686Tyr | |
| ENST00000358025.7:c.17444G>A (SYNE2) | ENSP00000350719.3:p.Cys5815Tyr | |
| ENST00000394768.6:c.6599G>A (SYNE2) | ENSP00000378249.2:p.Cys2200Tyr | |
| ENST00000553289.5:c.1199G>A (SYNE2) | ENSP00000451184.1:p.Cys400Tyr | |
| ENST00000554584.5:c.17039G>A (SYNE2) | ENSP00000452570.1:p.Cys5680Tyr | |
| ENST00000555002.5:c.7346G>A (SYNE2) | ENSP00000450831.1:p.Cys2449Tyr | |
| ENST00000555612.5:c.2330G>A (SYNE2) | ENSP00000451972.1:p.Cys777Tyr | |
| ENST00000556275.5:c.1406+57599C>T (ESR2) | ENSP00000452485.2:n.1406+57599C>T | |
| NM_015180.4:c.17444G>A (SYNE2) | NP_055995.4:p.Cys5815Tyr | |
| NM_182914.2:c.17444G>A (SYNE2) | NP_878918.2:p.Cys5815Tyr | |
| XM_005267454.1:c.17444G>A (SYNE2) | XP_005267511.1:p.Cys5815Tyr | |
| XM_005267456.1:c.17444G>A (SYNE2) | XP_005267513.1:p.Cys5815Tyr | |
| XM_005267457.1:c.17444G>A (SYNE2) | XP_005267514.1:p.Cys5815Tyr | |
| XM_005267458.1:c.17444G>A (SYNE2) | XP_005267515.1:p.Cys5815Tyr | |
| XM_005267459.1:c.17444G>A (SYNE2) | XP_005267516.1:p.Cys5815Tyr | |
| XM_011536545.1:c.1407-3812C>T (ESR2) | XP_011534847.1:n.1407-3812C>T | |
| XM_011536574.1:c.17444G>A (SYNE2) | XP_011534876.1:p.Cys5815Tyr | |
| XM_011536575.1:c.17444G>A (SYNE2) | XP_011534877.1:p.Cys5815Tyr | |
| XM_011536576.1:c.17444G>A (SYNE2) | XP_011534878.1:p.Cys5815Tyr | |
| XM_011536577.1:c.17444G>A (SYNE2) | XP_011534879.1:p.Cys5815Tyr | |
| XM_011536578.1:c.17444G>A (SYNE2) | XP_011534880.1:p.Cys5815Tyr | |
| XM_011536579.1:c.17444G>A (SYNE2) | XP_011534881.1:p.Cys5815Tyr | |
| XM_011536580.1:c.17444G>A (SYNE2) | XP_011534882.1:p.Cys5815Tyr | |
| XM_011536581.1:c.17444G>A (SYNE2) | XP_011534883.1:p.Cys5815Tyr | |
| XM_011536582.1:c.17327G>A (SYNE2) | XP_011534884.1:p.Cys5776Tyr | |
| XM_011536583.1:c.14249G>A (SYNE2) | XP_011534885.1:p.Cys4750Tyr | |
| XM_011536575.2:c.17444G>A (SYNE2) | XP_011534877.1:p.Cys5815Tyr | |
| XM_011536576.2:c.17444G>A (SYNE2) | XP_011534878.1:p.Cys5815Tyr | |
| XM_011536577.2:c.17444G>A (SYNE2) | XP_011534879.1:p.Cys5815Tyr | |
| XM_011536580.2:c.17444G>A (SYNE2) | XP_011534882.1:p.Cys5815Tyr | |
| XM_017021101.1:c.17444G>A (SYNE2) | XP_016876590.1:p.Cys5815Tyr | |
| XM_017021102.1:c.17375G>A (SYNE2) | XP_016876591.1:p.Cys5792Tyr | |
| NM_015180.5:c.17444G>A (SYNE2) | NP_055995.4:p.Cys5815Tyr | |
| NM_015180.6:c.17444G>A (SYNE2) | NP_055995.4:p.Cys5815Tyr | |
| NM_182914.3:c.17444G>A (SYNE2) MANE Select | NP_878918.2:p.Cys5815Tyr |