Linked Data
ClinVar Variation Id:
283703
dbSNP Id:
rs138789938
ExAC:
14:64689919 G / A
gnomAD v2:
14-64689919-G-A
gnomAD v3:
14-64223201-G-A
gnomAD v4:
14-64223201-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64223201G>A , CM000676.2:g.64223201G>A | GRCh38 |
| NC_000014.8:g.64689919G>A , CM000676.1:g.64689919G>A | GRCh37 |
| NC_000014.7:g.63759672G>A | NCBI36 |
| NG_011756.1:g.375237G>A | |
| NG_011756.2:g.466303G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554805.6:n.2053G>A (SYNE2) | ||
| ENST00000555002.6:c.20203G>A (SYNE2) MANE Select | ENSP00000450831.2:p.Glu6735Lys | |
| ENST00000344113.8:c.20134G>A (SYNE2) | ENSP00000341781.4:p.Glu6712Lys | |
| ENST00000357395.7:c.19900G>A (SYNE2) | ENSP00000349969.4:p.Glu6634Lys | |
| ENST00000358025.7:c.20203G>A (SYNE2) | ENSP00000350719.3:p.Glu6735Lys | |
| ENST00000394768.6:c.9289G>A (SYNE2) | ENSP00000378249.2:p.Glu3097Lys | |
| ENST00000441438.2:c.769G>A (SYNE2) | ENSP00000396794.2:p.Glu257Lys | |
| ENST00000458046.6:c.1147G>A (SYNE2) | ENSP00000391937.2:p.Glu383Lys | |
| ENST00000553289.5:c.*2009G>A (SYNE2) | ENSP00000451184.1:n.*2009G>A | |
| ENST00000554584.5:c.19882G>A (SYNE2) | ENSP00000452570.1:p.Glu6628Lys | |
| ENST00000554805.5:c.1483G>A (SYNE2) | ENSP00000450605.1:p.Glu495Lys | |
| ENST00000554928.1:n.869G>A (SYNE2) | ||
| ENST00000555002.5:c.10105G>A (SYNE2) | ENSP00000450831.1:p.Glu3369Lys | |
| ENST00000555022.5:c.1768G>A (SYNE2) | ENSP00000451009.1:p.Glu590Lys | |
| ENST00000555612.5:c.*1955G>A (SYNE2) | ENSP00000451972.1:n.*1955G>A | |
| ENST00000556275.5:c.1406+11769C>T (ESR2) | ENSP00000452485.2:n.1406+11769C>T | |
| NM_015180.4:c.20134G>A (SYNE2) | NP_055995.4:p.Glu6712Lys | |
| NM_182910.2:c.769G>A (SYNE2) | NP_878914.1:p.Glu257Lys | |
| NM_182913.2:c.1147G>A (SYNE2) | NP_878917.1:p.Glu383Lys | |
| NM_182914.2:c.20203G>A (SYNE2) | NP_878918.2:p.Glu6735Lys | |
| XM_005267454.1:c.20245G>A (SYNE2) | XP_005267511.1:p.Glu6749Lys | |
| XM_005267456.1:c.20245G>A (SYNE2) | XP_005267513.1:p.Glu6749Lys | |
| XM_005267457.1:c.20203G>A (SYNE2) | XP_005267514.1:p.Glu6735Lys | |
| XM_005267458.1:c.20176G>A (SYNE2) | XP_005267515.1:p.Glu6726Lys | |
| XM_005267459.1:c.20134G>A (SYNE2) | XP_005267516.1:p.Glu6712Lys | |
| XM_011536545.1:c.1406+11769C>T (ESR2) | XP_011534847.1:n.1406+11769C>T | |
| XM_011536574.1:c.20287G>A (SYNE2) | XP_011534876.1:p.Glu6763Lys | |
| XM_011536575.1:c.20287G>A (SYNE2) | XP_011534877.1:p.Glu6763Lys | |
| XM_011536576.1:c.20287G>A (SYNE2) | XP_011534878.1:p.Glu6763Lys | |
| XM_011536577.1:c.20287G>A (SYNE2) | XP_011534879.1:p.Glu6763Lys | |
| XM_011536578.1:c.20287G>A (SYNE2) | XP_011534880.1:p.Glu6763Lys | |
| XM_011536579.1:c.20245G>A (SYNE2) | XP_011534881.1:p.Glu6749Lys | |
| XM_011536580.1:c.20245G>A (SYNE2) | XP_011534882.1:p.Glu6749Lys | |
| XM_011536581.1:c.20218G>A (SYNE2) | XP_011534883.1:p.Glu6740Lys | |
| XM_011536582.1:c.20170G>A (SYNE2) | XP_011534884.1:p.Glu6724Lys | |
| XM_011536583.1:c.17092G>A (SYNE2) | XP_011534885.1:p.Glu5698Lys | |
| XM_011536575.2:c.20287G>A (SYNE2) | XP_011534877.1:p.Glu6763Lys | |
| XM_011536576.2:c.20287G>A (SYNE2) | XP_011534878.1:p.Glu6763Lys | |
| XM_011536577.2:c.20287G>A (SYNE2) | XP_011534879.1:p.Glu6763Lys | |
| XM_011536580.2:c.20245G>A (SYNE2) | XP_011534882.1:p.Glu6749Lys | |
| XM_017021101.1:c.20287G>A (SYNE2) | XP_016876590.1:p.Glu6763Lys | |
| XM_017021102.1:c.20218G>A (SYNE2) | XP_016876591.1:p.Glu6740Lys | |
| XM_017021103.2:c.2227G>A (SYNE2) | XP_016876592.1:p.Glu743Lys | |
| XM_017021104.2:c.2227G>A (SYNE2) | XP_016876593.1:p.Glu743Lys | |
| NM_015180.5:c.20134G>A (SYNE2) | NP_055995.4:p.Glu6712Lys | |
| NM_182913.3:c.1147G>A (SYNE2) | NP_878917.1:p.Glu383Lys | |
| NM_015180.6:c.20134G>A (SYNE2) | NP_055995.4:p.Glu6712Lys | |
| NM_182913.4:c.1147G>A (SYNE2) | NP_878917.1:p.Glu383Lys | |
| NM_182914.3:c.20203G>A (SYNE2) MANE Select | NP_878918.2:p.Glu6735Lys |