Linked Data
ClinVar Variation Id:
222816
dbSNP Id:
rs749838192
gnomAD v2:
22-50962824-C-CTGAGTCACTGCTGCATGCT
gnomAD v3:
22-50524395-C-CTGAGTCACTGCTGCATGCT
gnomAD v4:
22-50524395-C-CTGAGTCACTGCTGCATGCT
MyVariant Identifiers:
chr22:g.50962824_50962825insTGAGTCACTGCTGCATGCT (hg19)
chr22:g.50524395_50524396insTGAGTCACTGCTGCATGCT (hg38)
PubMed:
PMID:20159436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50524395_50524396insTGAGTCACTGCTGCATGCT , CM000684.2:g.50524395_50524396insTGAGTCACTGCTGCATGCT | GRCh38 |
| NC_000022.10:g.50962824_50962825insTGAGTCACTGCTGCATGCT , CM000684.1:g.50962824_50962825insTGAGTCACTGCTGCATGCT | GRCh37 |
| NC_000022.9:g.49309690_49309691insTGAGTCACTGCTGCATGCT | NCBI36 |
| NG_011860.1:g.10690_10691insAGCATGCAGCAGTGACTCA , LRG_727:g.10690_10691insAGCATGCAGCAGTGACTCA | |
| NG_016235.1:g.7044_7045insAGCATGCAGCAGTGACTCA | |
| NG_021419.1:g.21180_21181insTGAGTCACTGCTGCATGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395693.8:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) MANE Select | ENSP00000379046.4:p.Arg6GlnfsTer? | |
| ENST00000420993.7:c.*1020_*1021insTGAGTCACTGCTGCATGCT (NCAPH2) MANE Select | ENSP00000410088.2:n.*1020_*1021insTGAGTCACTGCTGCATGCT | |
| ENST00000543927.6:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) | ENSP00000444433.1:p.Arg6GlnfsTer? | |
| ENST00000638598.2:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) | ENSP00000491753.2:p.Arg6GlnfsTer? | |
| ENST00000252785.3:c.16_17insAGCATGCAGCAGTGACTCA | ENSP00000252785.3:p.Arg6GlnfsTer? | |
| ENST00000395693.7:c.16_17insAGCATGCAGCAGTGACTCA | ENSP00000379046.3:p.Arg6GlnfsTer? | |
| ENST00000423348.1:c.16_17insAGCATGCAGCAGTGACTCA | ENSP00000403570.1:p.Arg6GlnfsTer? | |
| ENST00000439934.5:c.16_17insAGCATGCAGCAGTGACTCA | ENSP00000415642.1:p.Arg6GlnfsTer? | |
| ENST00000535425.5:c.16_17insAGCATGCAGCAGTGACTCA | ENSP00000444242.1:p.Arg6GlnfsTer? | |
| ENST00000543927.5:c.16_17insAGCATGCAGCAGTGACTCA | ENSP00000444433.1:p.Arg6GlnfsTer? | |
| NM_001169109.1:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) | NP_001162580.1:p.Arg6GlnfsTer? | |
| NM_001169110.1:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) | NP_001162581.1:p.Arg6GlnfsTer? | |
| NM_001169111.1:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) | NP_001162582.1:p.Arg6GlnfsTer? | |
| NM_001185011.1:c.*1020_*1021insTGAGTCACTGCTGCATGCT (NCAPH2) | NP_001171940.1:n.*1020_*1021insTGAGTCACTGCTGCATGCT | |
| NM_005138.2:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) | NP_005129.2:p.Arg6GlnfsTer? | |
| NM_152299.3:c.*1020_*1021insTGAGTCACTGCTGCATGCT (NCAPH2) | NP_689512.2:n.*1020_*1021insTGAGTCACTGCTGCATGCT | |
| XR_001755232.1:n.3048_3049insTGAGTCACTGCTGCATGCT (NCAPH2) | ||
| NM_152299.4:c.*1020_*1021insTGAGTCACTGCTGCATGCT (NCAPH2) MANE Select | NP_689512.2:n.*1020_*1021insTGAGTCACTGCTGCATGCT | |
| NM_001185011.2:c.*1020_*1021insTGAGTCACTGCTGCATGCT (NCAPH2) | NP_001171940.1:n.*1020_*1021insTGAGTCACTGCTGCATGCT | |
| NM_005138.3:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) MANE Select | NP_005129.2:p.Arg6GlnfsTer? | |
| NM_001169109.2:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) | NP_001162580.1:p.Arg6GlnfsTer? | |
| NM_001169111.2:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) | NP_001162582.1:p.Arg6GlnfsTer? |