Linked Data
dbSNP Id:
rs1318049554
gnomAD v3:
2-240868682-G-GCCTGGCCGTGA
gnomAD v4:
2-240868682-G-GCCTGGCCGTGA
MyVariant Identifiers:
chr2:g.241808099_241808100insCCTGGCCGTGA (hg19)
chr2:g.240868682_240868683insCCTGGCCGTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868685_240868695dup , CM000664.2:g.240868685_240868695dup | GRCh38 |
| NC_000002.11:g.241808102_241808112dup , CM000664.1:g.241808102_241808112dup | GRCh37 |
| NC_000002.10:g.241456775_241456785dup | NCBI36 |
| NG_008005.1:g.4941_4951dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-181_-171dup | ENSP00000302620.3:n.-181_-171dup | |
| XR_924060.1:n.405+1540_405+1550dup |