Linked Data
ClinVar Variation Id:
551964
ClinVar RCV Id:
RCV000667143
dbSNP Id:
rs1553418449
MyVariant Identifiers:
chr2:g.73572421_73572422insCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572421_73572422insCA , CM000664.2:g.73572421_73572422insCA | GRCh38 |
| NC_000002.11:g.73799548_73799549insCA , CM000664.1:g.73799548_73799549insCA | GRCh37 |
| NC_000002.10:g.73653056_73653057insCA | NCBI36 |
| NG_011690.1:g.191669_191670insCA , LRG_741:g.191669_191670insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10163_10164insCA | ENSP00000507671.1:p.Gln3389IlefsTer? | |
| ENST00000682801.1:c.10163_10164insCA | ENSP00000507862.1:p.Gln3389IlefsTer? | |
| ENST00000682859.1:c.10163_10164insCA | ENSP00000508222.1:p.Gln3389IlefsTer? | |
| ENST00000683791.1:c.3249_3250insCA | ||
| ENST00000684460.1:c.7444_7445insCA | ||
| ENST00000684548.1:c.10163_10164insCA | ENSP00000507421.1:p.Gln3389IlefsTer? | |
| ENST00000684590.1:c.4610_4611insCA | ENSP00000507376.1:p.Gln1538IlefsTer? | |
| ENST00000684656.1:c.7489_7490insCA | ||
| ENST00000613296.6:c.10544_10545insCA MANE Select | ENSP00000482968.1:p.Gln3516IlefsTer? | |
| ENST00000651057.1:c.698_699insCA | ENSP00000498504.1:p.Gln234IlefsTer? | |
| ENST00000651434.1:c.1900_1901insCA | ||
| ENST00000652487.1:c.1641_1642insCA | ||
| ENST00000423048.5:c.4035_4036insCA | ENSP00000399833.1:n.4035_4036insCA | |
| ENST00000484298.5:c.10418_10419insCA | ENSP00000478155.1:p.Gln3474IlefsTer? | |
| ENST00000613296.4:c.10544_10545insCA | ENSP00000482968.1:p.Gln3516IlefsTer? | |
| ENST00000614410.4:c.10544_10545insCA | ENSP00000479094.1:p.Gln3516IlefsTer? | |
| ENST00000620466.4:n.4347_4348insCA | ||
| NM_015120.4:c.10547_10548insCA , LRG_741t1:c.10547_10548insCA | NP_055935.4:p.Gln3517IlefsTer? | |
| NM_001378454.1:c.10544_10545insCA MANE Select | NP_001365383.1:p.Gln3516IlefsTer? |