Linked Data
dbSNP Id:
rs1257184818
MyVariant Identifiers:
chr2:g.263440_263441insGACCCCGCGCTCGCCCT (hg19)
chr2:g.263440_263441insGACCCCGCGCTCGCCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.263442_263458dup , CM000664.2:g.263442_263458dup | GRCh38 |
| NC_000002.11:g.263442_263458dup , CM000664.1:g.263442_263458dup | GRCh37 |
| NC_000002.10:g.253442_253458dup | NCBI36 |
| NG_012035.1:g.3574_3590dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356150.10:c.1+527_1+543dup MANE Select | ENSP00000348471.5:n.1+527_1+543dup | |
| ENST00000356150.9:c.1+527_1+543dup | ENSP00000348471.5:n.1+527_1+543dup | |
| ENST00000402632.5:c.-155-671_-155-655dup | ENSP00000384910.1:n.-155-671_-155-655dup | |
| ENST00000403658.5:c.-422+1325_-422+1341dup | ENSP00000383928.1:n.-422+1325_-422+1341dup | |
| ENST00000403712.6:c.1+527_1+543dup | ENSP00000384276.1:n.1+527_1+543dup | |
| ENST00000405430.5:c.-281-85_-281-69dup | ENSP00000384269.1:n.-281-85_-281-69dup | |
| ENST00000415368.5:c.-313-89_-313-73dup | ENSP00000410235.1:n.-313-89_-313-73dup | |
| ENST00000454318.1:c.-362+1325_-362+1341dup | ENSP00000415723.1:n.-362+1325_-362+1341dup | |
| ENST00000462719.1:n.106-2737_106-2721dup | ||
| ENST00000463865.5:n.309+627_309+643dup | ||
| ENST00000465733.5:n.30-85_30-69dup | ||
| ENST00000468321.5:n.42-671_42-655dup | ||
| ENST00000471948.5:n.527_543dup | ||
| ENST00000472861.1:n.30-85_30-69dup | ||
| ENST00000475027.5:n.29+1325_29+1341dup | ||
| ENST00000477707.5:n.229-85_229-69dup | ||
| ENST00000488044.5:n.85+1325_85+1341dup | ||
| ENST00000488979.6:n.27+1085_27+1101dup | ||
| ENST00000626873.2:c.-556+687_-556+703dup | ENSP00000485824.1:n.-556+687_-556+703dup | |
| NM_001159597.2:c.1+527_1+543dup | NP_001153069.1:n.1+527_1+543dup | |
| NM_001282682.1:c.-422+1325_-422+1341dup | NP_001269611.1:n.-422+1325_-422+1341dup | |
| NM_015677.3:c.1+527_1+543dup | NP_056492.2:n.1+527_1+543dup | |
| NR_104223.1:n.42-671_42-655dup | ||
| NR_104224.1:n.86-671_86-655dup | ||
| NR_104225.1:n.309+627_309+643dup | ||
| NM_015677.4:c.1+527_1+543dup MANE Select | NP_056492.2:n.1+527_1+543dup | |
| NR_104224.2:n.44-671_44-655dup | ||
| NM_001159597.3:c.1+527_1+543dup | NP_001153069.1:n.1+527_1+543dup | |
| NM_001282682.2:c.-422+1325_-422+1341dup | NP_001269611.1:n.-422+1325_-422+1341dup | |
| NR_104223.2:n.42-671_42-655dup | ||
| NR_104224.3:n.44-671_44-655dup |