Linked Data
ClinVar Variation Id:
2572204
ClinVar RCV Id:
RCV003314089
dbSNP Id:
rs769024348
ExAC:
6:33405544 G / A
gnomAD v2:
6-33405544-G-A
gnomAD v3:
6-33437767-G-A
gnomAD v4:
6-33437767-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33437767G>A , CM000668.2:g.33437767G>A | GRCh38 |
| NC_000006.11:g.33405544G>A , CM000668.1:g.33405544G>A | GRCh37 |
| NC_000006.10:g.33513522G>A | NCBI36 |
| NG_016137.1:g.22698G>A | |
| NG_016137.2:g.22698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.604G>A (SYNGAP1) | ENSP00000507403.1:p.Asp202Asn | |
| ENST00000418600.7:c.862G>A (SYNGAP1) | ENSP00000403636.3:p.Asp288Asn | |
| ENST00000449372.7:c.862G>A (SYNGAP1) | ENSP00000416519.4:p.Asp288Asn | |
| ENST00000629380.3:c.862G>A (SYNGAP1) | ENSP00000486463.1:p.Asp288Asn | |
| ENST00000638142.2:c.862G>A (SYNGAP1) | ENSP00000490803.1:p.Asp288Asn | |
| ENST00000644458.1:c.862G>A (SYNGAP1) | ENSP00000495541.1:p.Asp288Asn | |
| ENST00000645250.1:c.685G>A (SYNGAP1) | ENSP00000494861.1:p.Asp229Asn | |
| ENST00000646630.1:c.862G>A (SYNGAP1) MANE Select | ENSP00000496007.1:p.Asp288Asn | |
| ENST00000293748.9:c.817G>A (SYNGAP1) | ENSP00000293748.6:p.Asp273Asn | |
| ENST00000418600.6:c.862G>A (SYNGAP1) | ENSP00000403636.3:p.Asp288Asn | |
| ENST00000428982.4:c.685G>A (SYNGAP1) | ENSP00000412475.2:p.Asp229Asn | |
| ENST00000449372.6:c.862G>A (SYNGAP1) | ENSP00000416519.3:p.Asp288Asn | |
| ENST00000479510.2:n.1057G>A (SYNGAP1) | ||
| ENST00000628646.2:c.862G>A (SYNGAP1) | ENSP00000486431.1:p.Asp288Asn | |
| ENST00000629380.2:c.862G>A (SYNGAP1) | ENSP00000486463.1:p.Asp288Asn | |
| NM_006772.2:c.862G>A (SYNGAP1) | NP_006763.2:p.Asp288Asn | |
| NM_001130066.1:c.862G>A (SYNGAP1) | NP_001123538.1:p.Asp288Asn | |
| NM_001130066.2:c.862G>A (SYNGAP1) | NP_001123538.1:p.Asp288Asn | |
| NM_006772.3:c.862G>A (SYNGAP1) MANE Select | NP_006763.2:p.Asp288Asn | |
| NR_174954.1:n.330-286C>T (SYNGAP1-AS1) |