Linked Data
ClinVar Variation Id:
313681
ClinVar RCV Id:
RCV000385648
dbSNP Id:
rs1152582
gnomAD v2:
14-64692630-G-C
gnomAD v3:
14-64225912-G-C
gnomAD v4:
14-64225912-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64225912G>C , CM000676.2:g.64225912G>C | GRCh38 |
| NC_000014.8:g.64692630G>C , CM000676.1:g.64692630G>C | GRCh37 |
| NC_000014.7:g.63762383G>C | NCBI36 |
| NG_011535.1:g.117639C>G | |
| NG_011756.1:g.377948G>C | |
| NG_011756.2:g.469014G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000554805.6:n.2963G>C (SYNE2) | ||
| ENST00000555002.6:c.*386G>C (SYNE2) MANE Select | ENSP00000450831.2:n.*386G>C | |
| ENST00000344113.8:c.*386G>C (SYNE2) | ENSP00000341781.4:n.*386G>C | |
| ENST00000357395.7:c.*348G>C (SYNE2) | ENSP00000349969.4:n.*348G>C | |
| ENST00000358025.7:c.*386G>C (SYNE2) | ENSP00000350719.3:n.*386G>C | |
| ENST00000394768.6:c.*386G>C (SYNE2) | ENSP00000378249.2:n.*386G>C | |
| ENST00000441438.2:c.*386G>C (SYNE2) | ENSP00000396794.2:n.*386G>C | |
| ENST00000458046.6:c.*386G>C (SYNE2) | ENSP00000391937.2:n.*386G>C | |
| ENST00000553289.5:c.*2919G>C (SYNE2) | ENSP00000451184.1:n.*2919G>C | |
| ENST00000554805.5:c.*386G>C (SYNE2) | ENSP00000450605.1:n.*386G>C | |
| ENST00000555002.5:c.11012G>C (SYNE2) | ENSP00000450831.1:n.11012G>C | |
| ENST00000555022.5:c.*386G>C (SYNE2) | ENSP00000451009.1:n.*386G>C | |
| ENST00000555612.5:c.*2865G>C (SYNE2) | ENSP00000451972.1:n.*2865G>C | |
| ENST00000556275.5:c.1406+9058C>G (ESR2) | ENSP00000452485.2:n.1406+9058C>G | |
| NM_015180.4:c.*386G>C (SYNE2) | NP_055995.4:n.*386G>C | |
| NM_182910.2:c.*386G>C (SYNE2) | NP_878914.1:n.*386G>C | |
| NM_182913.2:c.*386G>C (SYNE2) | NP_878917.1:n.*386G>C | |
| NM_182914.2:c.*386G>C (SYNE2) | NP_878918.2:n.*386G>C | |
| XM_005267454.1:c.*386G>C (SYNE2) | XP_005267511.1:n.*386G>C | |
| XM_005267456.1:c.*386G>C (SYNE2) | XP_005267513.1:n.*386G>C | |
| XM_005267457.1:c.*386G>C (SYNE2) | XP_005267514.1:n.*386G>C | |
| XM_005267458.1:c.*386G>C (SYNE2) | XP_005267515.1:n.*386G>C | |
| XM_005267459.1:c.*386G>C (SYNE2) | XP_005267516.1:n.*386G>C | |
| XM_011536545.1:c.1406+9058C>G (ESR2) | XP_011534847.1:n.1406+9058C>G | |
| XM_011536574.1:c.*386G>C (SYNE2) | XP_011534876.1:n.*386G>C | |
| XM_011536575.1:c.*386G>C (SYNE2) | XP_011534877.1:n.*386G>C | |
| XM_011536576.1:c.*386G>C (SYNE2) | XP_011534878.1:n.*386G>C | |
| XM_011536577.1:c.*386G>C (SYNE2) | XP_011534879.1:n.*386G>C | |
| XM_011536578.1:c.*386G>C (SYNE2) | XP_011534880.1:n.*386G>C | |
| XM_011536579.1:c.*386G>C (SYNE2) | XP_011534881.1:n.*386G>C | |
| XM_011536580.1:c.*386G>C (SYNE2) | XP_011534882.1:n.*386G>C | |
| XM_011536581.1:c.*386G>C (SYNE2) | XP_011534883.1:n.*386G>C | |
| XM_011536582.1:c.*386G>C (SYNE2) | XP_011534884.1:n.*386G>C | |
| XM_011536583.1:c.*386G>C (SYNE2) | XP_011534885.1:n.*386G>C | |
| XM_011536575.2:c.*386G>C (SYNE2) | XP_011534877.1:n.*386G>C | |
| XM_011536576.2:c.*386G>C (SYNE2) | XP_011534878.1:n.*386G>C | |
| XM_011536577.2:c.*386G>C (SYNE2) | XP_011534879.1:n.*386G>C | |
| XM_011536580.2:c.*386G>C (SYNE2) | XP_011534882.1:n.*386G>C | |
| XM_017021101.1:c.*386G>C (SYNE2) | XP_016876590.1:n.*386G>C | |
| XM_017021102.1:c.*386G>C (SYNE2) | XP_016876591.1:n.*386G>C | |
| XM_017021103.2:c.*386G>C (SYNE2) | XP_016876592.1:n.*386G>C | |
| XM_017021104.2:c.*386G>C (SYNE2) | XP_016876593.1:n.*386G>C | |
| NM_015180.5:c.*386G>C (SYNE2) | NP_055995.4:n.*386G>C | |
| NM_182913.3:c.*386G>C (SYNE2) | NP_878917.1:n.*386G>C | |
| NM_015180.6:c.*386G>C (SYNE2) | NP_055995.4:n.*386G>C | |
| NM_182913.4:c.*386G>C (SYNE2) | NP_878917.1:n.*386G>C | |
| NM_182914.3:c.*386G>C (SYNE2) MANE Select | NP_878918.2:n.*386G>C |