Linked Data
dbSNP Id:
rs368725878
gnomAD v2:
2-223066536-C-CAAA
gnomAD v3:
2-222201817-C-CAAA
gnomAD v4:
2-222201817-C-CAAA
MyVariant Identifiers:
chr2:g.223066538_223066539insAAA (hg19)
chr2:g.222201819_222201820insAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222201830_222201832dup , CM000664.2:g.222201830_222201832dup | GRCh38 |
| NC_000002.11:g.223066549_223066551dup , CM000664.1:g.223066549_223066551dup | GRCh37 |
| NC_000002.10:g.222774793_222774795dup | NCBI36 |
| NG_011632.1:g.102162_102164dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336840.11:c.1174-378_1174-376dup | ENSP00000338767.5:n.1174-378_1174-376dup | |
| ENST00000344493.9:c.1174-378_1174-376dup | ENSP00000342092.4:n.1174-378_1174-376dup | |
| ENST00000350526.9:c.*104_*106dup | ENSP00000343052.4:n.*104_*106dup | |
| ENST00000392070.7:c.1420+124_1420+126dup MANE Select | ENSP00000375922.3:n.1420+124_1420+126dup | |
| ENST00000464706.6:n.858+124_858+126dup | ||
| ENST00000644699.1:n.746+124_746+126dup | ||
| ENST00000646154.1:n.1234+124_1234+126dup | ||
| ENST00000336840.10:c.1174-378_1174-376dup | ENSP00000338767.5:n.1174-378_1174-376dup | |
| ENST00000344493.8:c.1174-378_1174-376dup | ENSP00000342092.4:n.1174-378_1174-376dup | |
| ENST00000350526.8:c.*104_*106dup | ENSP00000343052.4:n.*104_*106dup | |
| ENST00000392069.6:c.1420+124_1420+126dup | ENSP00000375921.2:n.1420+124_1420+126dup | |
| ENST00000392070.6:c.1420+124_1420+126dup | ENSP00000375922.2:n.1420+124_1420+126dup | |
| ENST00000409551.7:c.1417+124_1417+126dup | ENSP00000386750.3:n.1417+124_1417+126dup | |
| NM_001127366.2:c.1417+124_1417+126dup | NP_001120838.1:n.1417+124_1417+126dup | |
| NM_181457.3:c.*104_*106dup | NP_852122.1:n.*104_*106dup | |
| NM_181458.3:c.1420+124_1420+126dup | NP_852123.1:n.1420+124_1420+126dup | |
| NM_181459.3:c.1420+124_1420+126dup | NP_852124.1:n.1420+124_1420+126dup | |
| NM_181460.3:c.1174-378_1174-376dup | NP_852125.1:n.1174-378_1174-376dup | |
| NM_181461.3:c.1174-378_1174-376dup | NP_852126.1:n.1174-378_1174-376dup | |
| XM_011511278.1:c.1564+124_1564+126dup | XP_011509580.1:n.1564+124_1564+126dup | |
| XM_011511279.1:c.856+124_856+126dup | XP_011509581.1:n.856+124_856+126dup | |
| NM_001127366.3:c.1417+124_1417+126dup | NP_001120838.1:n.1417+124_1417+126dup | |
| NM_181457.4:c.*104_*106dup | NP_852122.1:n.*104_*106dup | |
| NM_181458.4:c.1420+124_1420+126dup MANE Select | NP_852123.1:n.1420+124_1420+126dup | |
| NM_181459.4:c.1420+124_1420+126dup | NP_852124.1:n.1420+124_1420+126dup | |
| NM_181460.4:c.1174-378_1174-376dup | NP_852125.1:n.1174-378_1174-376dup | |
| NM_181461.4:c.1174-378_1174-376dup | NP_852126.1:n.1174-378_1174-376dup |