Linked Data
ClinVar Variation Id:
313647
dbSNP Id:
rs150629598
ExAC:
14:64680991 G / A
gnomAD v2:
14-64680991-G-A
gnomAD v3:
14-64214273-G-A
gnomAD v4:
14-64214273-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64214273G>A , CM000676.2:g.64214273G>A | GRCh38 |
| NC_000014.8:g.64680991G>A , CM000676.1:g.64680991G>A | GRCh37 |
| NC_000014.7:g.63750744G>A | NCBI36 |
| NG_011756.1:g.366309G>A | |
| NG_011756.2:g.457375G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554805.6:n.1055G>A (SYNE2) | ||
| ENST00000555002.6:c.19136G>A (SYNE2) MANE Select | ENSP00000450831.2:p.Arg6379His | |
| ENST00000344113.8:c.19136G>A (SYNE2) | ENSP00000341781.4:p.Arg6379His | |
| ENST00000357395.7:c.18980G>A (SYNE2) | ENSP00000349969.4:p.Arg6327His | |
| ENST00000358025.7:c.19136G>A (SYNE2) | ENSP00000350719.3:p.Arg6379His | |
| ENST00000394768.6:c.8291G>A (SYNE2) | ENSP00000378249.2:p.Arg2764His | |
| ENST00000458046.6:c.38G>A (SYNE2) | ENSP00000391937.2:p.Arg13His | |
| ENST00000553289.5:c.*1011G>A (SYNE2) | ENSP00000451184.1:n.*1011G>A | |
| ENST00000554584.5:c.18962G>A (SYNE2) | ENSP00000452570.1:p.Arg6321His | |
| ENST00000554805.5:c.485G>A (SYNE2) | ENSP00000450605.1:p.Arg162His | |
| ENST00000555002.5:c.9038G>A (SYNE2) | ENSP00000450831.1:p.Arg3013His | |
| ENST00000555022.5:c.770G>A (SYNE2) | ENSP00000451009.1:p.Arg257His | |
| ENST00000555612.5:c.*915G>A (SYNE2) | ENSP00000451972.1:n.*915G>A | |
| ENST00000556275.5:c.1406+20697C>T (ESR2) | ENSP00000452485.2:n.1406+20697C>T | |
| ENST00000557084.1:c.70G>A (SYNE2) | ENSP00000450789.1:p.Val24Ile | |
| ENST00000557307.1:n.275G>A (SYNE2) | ||
| NM_015180.4:c.19136G>A (SYNE2) | NP_055995.4:p.Arg6379His | |
| NM_182913.2:c.38G>A (SYNE2) | NP_878917.1:p.Arg13His | |
| NM_182914.2:c.19136G>A (SYNE2) | NP_878918.2:p.Arg6379His | |
| XM_005267454.1:c.19136G>A (SYNE2) | XP_005267511.1:p.Arg6379His | |
| XM_005267456.1:c.19136G>A (SYNE2) | XP_005267513.1:p.Arg6379His | |
| XM_005267457.1:c.19136G>A (SYNE2) | XP_005267514.1:p.Arg6379His | |
| XM_005267458.1:c.19136G>A (SYNE2) | XP_005267515.1:p.Arg6379His | |
| XM_005267459.1:c.19136G>A (SYNE2) | XP_005267516.1:p.Arg6379His | |
| XM_011536545.1:c.1406+20697C>T (ESR2) | XP_011534847.1:n.1406+20697C>T | |
| XM_011536574.1:c.19136G>A (SYNE2) | XP_011534876.1:p.Arg6379His | |
| XM_011536575.1:c.19136G>A (SYNE2) | XP_011534877.1:p.Arg6379His | |
| XM_011536576.1:c.19136G>A (SYNE2) | XP_011534878.1:p.Arg6379His | |
| XM_011536577.1:c.19136G>A (SYNE2) | XP_011534879.1:p.Arg6379His | |
| XM_011536578.1:c.19136G>A (SYNE2) | XP_011534880.1:p.Arg6379His | |
| XM_011536579.1:c.19136G>A (SYNE2) | XP_011534881.1:p.Arg6379His | |
| XM_011536580.1:c.19136G>A (SYNE2) | XP_011534882.1:p.Arg6379His | |
| XM_011536581.1:c.19136G>A (SYNE2) | XP_011534883.1:p.Arg6379His | |
| XM_011536582.1:c.19019G>A (SYNE2) | XP_011534884.1:p.Arg6340His | |
| XM_011536583.1:c.15941G>A (SYNE2) | XP_011534885.1:p.Arg5314His | |
| XM_011536575.2:c.19136G>A (SYNE2) | XP_011534877.1:p.Arg6379His | |
| XM_011536576.2:c.19136G>A (SYNE2) | XP_011534878.1:p.Arg6379His | |
| XM_011536577.2:c.19136G>A (SYNE2) | XP_011534879.1:p.Arg6379His | |
| XM_011536580.2:c.19136G>A (SYNE2) | XP_011534882.1:p.Arg6379His | |
| XM_017021101.1:c.19136G>A (SYNE2) | XP_016876590.1:p.Arg6379His | |
| XM_017021102.1:c.19067G>A (SYNE2) | XP_016876591.1:p.Arg6356His | |
| XM_017021103.2:c.1118G>A (SYNE2) | XP_016876592.1:p.Arg373His | |
| XM_017021104.2:c.1118G>A (SYNE2) | XP_016876593.1:p.Arg373His | |
| NM_015180.5:c.19136G>A (SYNE2) | NP_055995.4:p.Arg6379His | |
| NM_182913.3:c.38G>A (SYNE2) | NP_878917.1:p.Arg13His | |
| NM_015180.6:c.19136G>A (SYNE2) | NP_055995.4:p.Arg6379His | |
| NM_182913.4:c.38G>A (SYNE2) | NP_878917.1:p.Arg13His | |
| NM_182914.3:c.19136G>A (SYNE2) MANE Select | NP_878918.2:p.Arg6379His |