Linked Data
dbSNP Id:
rs1564904536
gnomAD v2:
11-2167596-ACGAGGCGCTGACCTTGCG-A
gnomAD v3:
11-2146366-ACGAGGCGCTGACCTTGCG-A
gnomAD v4:
11-2146366-ACGAGGCGCTGACCTTGCG-A
MyVariant Identifiers:
chr11:g.2167597_2167614del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2146368_2146385del , CM000673.2:g.2146368_2146385del | GRCh38 |
| NC_000011.9:g.2167598_2167615del , CM000673.1:g.2167598_2167615del | GRCh37 |
| NC_000011.8:g.2124174_2124191del | NCBI36 |
| NG_008849.1:g.8220_8237del | |
| NG_050578.1:g.19826_19843del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481781.3:c.-7+1182_-7+1199del (IGF2) | ENSP00000511998.1:n.-7+1182_-7+1199del | |
| ENST00000643349.2:c.*46+1182_*46+1199del | ENSP00000495715.1:n.*46+1182_*46+1199del | |
| ENST00000695541.1:c.-7+1182_-7+1199del (IGF2) | ENSP00000511997.1:n.-7+1182_-7+1199del | |
| ENST00000643349.1:c.*46+1182_*46+1199del | ENSP00000495715.1:n.*46+1182_*46+1199del | |
| ENST00000356578.8:c.*46+1182_*46+1199del (INS-IGF2) | ENSP00000348986.4:n.*46+1182_*46+1199del | |
| NM_001007139.5:c.-7+1182_-7+1199del (IGF2) | NP_001007140.2:n.-7+1182_-7+1199del | |
| NR_003512.3:n.708+1182_708+1199del (INS-IGF2) | ||
| NR_028043.2:n.560_577del (IGF2-AS) | ||
| NR_133657.1:n.449_466del (IGF2-AS) | ||
| NR_003512.4:n.708+1182_708+1199del (INS-IGF2) | ||
| NM_001007139.6:c.-7+1182_-7+1199del (IGF2) | NP_001007140.2:n.-7+1182_-7+1199del |