Linked Data
dbSNP Id:
rs10037485
ExAC:
5:156770133 C / T
gnomAD v2:
5-156770133-C-T
gnomAD v3:
5-157343125-C-T
gnomAD v4:
5-157343125-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157343125C>T , CM000667.2:g.157343125C>T | GRCh38 |
| NC_000005.9:g.156770133C>T , CM000667.1:g.156770133C>T | GRCh37 |
| NC_000005.8:g.156702711C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698888.1:c.2748+1968C>T (CYFIP2) | ENSP00000514007.1:n.2748+1968C>T | |
| ENST00000312349.5:c.412G>A (FNDC9) MANE Select | ENSP00000310594.4:p.Val138Ile | |
| ENST00000519499.2:c.412G>A | ENSP00000496943.1:p.Val138Ile | |
| ENST00000620254.5:c.2673+1968C>T (CYFIP2) MANE Select | ENSP00000479968.1:n.2673+1968C>T | |
| ENST00000312349.4:c.412G>A (FNDC9) | ENSP00000310594.4:p.Val138Ile | |
| ENST00000435847.6:c.2265+1968C>T (CYFIP2) | ENSP00000403793.3:n.2265+1968C>T | |
| ENST00000520782.1:c.412G>A (FNDC9) | ENSP00000429434.1:p.Val138Ile | |
| ENST00000521420.5:c.2595+1968C>T (CYFIP2) | ENSP00000430904.1:n.2595+1968C>T | |
| ENST00000522463.5:c.2085+1968C>T (CYFIP2) | ENSP00000428009.1:n.2085+1968C>T | |
| ENST00000616178.4:c.2748+1968C>T (CYFIP2) | ENSP00000479719.1:n.2748+1968C>T | |
| ENST00000618329.4:c.2673+1968C>T (CYFIP2) | ENSP00000484819.1:n.2673+1968C>T | |
| ENST00000620254.4:c.2673+1968C>T (CYFIP2) | ENSP00000479968.1:n.2673+1968C>T | |
| ENST00000620969.4:c.580+1968C>T (CYFIP2) | ENSP00000483307.1:n.580+1968C>T | |
| NM_001001343.3:c.412G>A (FNDC9) | NP_001001343.2:p.Val138Ile | |
| NM_001037333.2:c.2673+1968C>T (CYFIP2) | NP_001032410.1:n.2673+1968C>T | |
| NM_001291721.1:c.2595+1968C>T (CYFIP2) | NP_001278650.1:n.2595+1968C>T | |
| NM_001291722.1:c.2748+1968C>T (CYFIP2) | NP_001278651.1:n.2748+1968C>T | |
| NM_014376.3:c.2673+1968C>T (CYFIP2) | NP_055191.2:n.2673+1968C>T | |
| XM_011534516.1:c.2673+1968C>T (CYFIP2) | XP_011532818.1:n.2673+1968C>T | |
| XM_011534517.1:c.2460+1968C>T (CYFIP2) | XP_011532819.1:n.2460+1968C>T | |
| XM_011534516.3:c.2673+1968C>T (CYFIP2) | XP_011532818.1:n.2673+1968C>T | |
| XM_017009341.1:c.2673+1968C>T (CYFIP2) | XP_016864830.1:n.2673+1968C>T | |
| XM_017009342.1:c.2460+1968C>T (CYFIP2) | XP_016864831.1:n.2460+1968C>T | |
| XR_001742052.2:n.2778+1968C>T (CYFIP2) | ||
| NM_001001343.4:c.412G>A (FNDC9) MANE Select | NP_001001343.2:p.Val138Ile | |
| NM_001037333.3:c.2673+1968C>T (CYFIP2) MANE Select | NP_001032410.1:n.2673+1968C>T | |
| NM_001291721.2:c.2595+1968C>T (CYFIP2) | NP_001278650.1:n.2595+1968C>T | |
| NM_001291722.2:c.2748+1968C>T (CYFIP2) | NP_001278651.1:n.2748+1968C>T | |
| NM_014376.4:c.2673+1968C>T (CYFIP2) | NP_055191.2:n.2673+1968C>T |