Linked Data
dbSNP Id:
rs1325115156
gnomAD v2:
2-223160395-G-GCAGGC
gnomAD v3:
2-222295676-G-GCAGGC
gnomAD v4:
2-222295676-G-GCAGGC
MyVariant Identifiers:
chr2:g.223160395_223160396insCAGGC (hg19)
chr2:g.222295676_222295677insCAGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222295677_222295681dup , CM000664.2:g.222295677_222295681dup | GRCh38 |
| NC_000002.11:g.223160396_223160400dup , CM000664.1:g.223160396_223160400dup | GRCh37 |
| NC_000002.10:g.222868640_222868644dup | NCBI36 |
| NG_011632.1:g.8301_8305dup | |
| NG_021186.1:g.2531_2535dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258387.6:c.322-24_322-20dup | ENSP00000258387.5:n.322-24_322-20dup | |
| ENST00000336840.11:c.322-24_322-20dup | ENSP00000338767.5:n.322-24_322-20dup | |
| ENST00000344493.9:c.322-24_322-20dup | ENSP00000342092.4:n.322-24_322-20dup | |
| ENST00000350526.9:c.322-24_322-20dup | ENSP00000343052.4:n.322-24_322-20dup | |
| ENST00000392070.7:c.322-24_322-20dup MANE Select | ENSP00000375922.3:n.322-24_322-20dup | |
| ENST00000647467.1:n.703-24_703-20dup | ||
| ENST00000258387.5:c.322-24_322-20dup | ENSP00000258387.5:n.322-24_322-20dup | |
| ENST00000336840.10:c.322-24_322-20dup | ENSP00000338767.5:n.322-24_322-20dup | |
| ENST00000344493.8:c.322-24_322-20dup | ENSP00000342092.4:n.322-24_322-20dup | |
| ENST00000350526.8:c.322-24_322-20dup | ENSP00000343052.4:n.322-24_322-20dup | |
| ENST00000392069.6:c.322-24_322-20dup | ENSP00000375921.2:n.322-24_322-20dup | |
| ENST00000392070.6:c.322-24_322-20dup | ENSP00000375922.2:n.322-24_322-20dup | |
| ENST00000409551.7:c.322-27_322-23dup | ENSP00000386750.3:n.322-27_322-23dup | |
| ENST00000409828.7:c.322-24_322-20dup | ENSP00000386817.3:n.322-24_322-20dup | |
| NM_000438.5:c.322-24_322-20dup | NP_000429.2:n.322-24_322-20dup | |
| NM_001127366.2:c.322-27_322-23dup | NP_001120838.1:n.322-27_322-23dup | |
| NM_013942.4:c.322-24_322-20dup | NP_039230.1:n.322-24_322-20dup | |
| NM_181457.3:c.322-24_322-20dup | NP_852122.1:n.322-24_322-20dup | |
| NM_181458.3:c.322-24_322-20dup | NP_852123.1:n.322-24_322-20dup | |
| NM_181459.3:c.322-24_322-20dup | NP_852124.1:n.322-24_322-20dup | |
| NM_181460.3:c.322-24_322-20dup | NP_852125.1:n.322-24_322-20dup | |
| NM_181461.3:c.322-24_322-20dup | NP_852126.1:n.322-24_322-20dup | |
| XM_011511278.1:c.466-24_466-20dup | XP_011509580.1:n.466-24_466-20dup | |
| XM_011511280.1:c.466-24_466-20dup | XP_011509582.1:n.466-24_466-20dup | |
| XM_011511281.1:c.466-24_466-20dup | XP_011509583.1:n.466-24_466-20dup | |
| NM_000438.6:c.322-24_322-20dup | NP_000429.2:n.322-24_322-20dup | |
| NM_001127366.3:c.322-27_322-23dup | NP_001120838.1:n.322-27_322-23dup | |
| NM_013942.5:c.322-24_322-20dup | NP_039230.1:n.322-24_322-20dup | |
| NM_181457.4:c.322-24_322-20dup | NP_852122.1:n.322-24_322-20dup | |
| NM_181458.4:c.322-24_322-20dup MANE Select | NP_852123.1:n.322-24_322-20dup | |
| NM_181459.4:c.322-24_322-20dup | NP_852124.1:n.322-24_322-20dup | |
| NM_181460.4:c.322-24_322-20dup | NP_852125.1:n.322-24_322-20dup | |
| NM_181461.4:c.322-24_322-20dup | NP_852126.1:n.322-24_322-20dup |