Linked Data
dbSNP Id:
rs1480326807
gnomAD v3:
2-233275585-G-GTGGACTGGCTGAGTGA
gnomAD v4:
2-233275585-G-GTGGACTGGCTGAGTGA
MyVariant Identifiers:
chr2:g.233275585_233275586insTGGACTGGCTGAGTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233275588_233275603dup , CM000664.2:g.233275588_233275603dup | GRCh38 |
| NC_000002.11:g.234184234_234184249dup , CM000664.1:g.234184234_234184249dup | GRCh37 |
| NC_000002.10:g.233848973_233848988dup | NCBI36 |
| NG_023038.1:g.29018_29033dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392017.9:c.954+810_954+825dup MANE Select | ENSP00000375872.4:n.954+810_954+825dup | |
| ENST00000347464.9:c.465+810_465+825dup | ENSP00000318259.6:n.465+810_465+825dup | |
| ENST00000373525.9:c.522+810_522+825dup | ENSP00000362625.5:n.522+810_522+825dup | |
| ENST00000392017.8:c.954+810_954+825dup | ENSP00000375872.4:n.954+810_954+825dup | |
| ENST00000392018.1:c.1005+810_1005+825dup | ENSP00000375873.1:n.1005+810_1005+825dup | |
| ENST00000392020.8:c.897+810_897+825dup | ENSP00000375875.4:n.897+810_897+825dup | |
| ENST00000392021.7:c.*835+810_*835+825dup | ENSP00000375876.3:n.*835+810_*835+825dup | |
| ENST00000419681.5:c.465+810_465+825dup | ENSP00000398773.1:n.465+810_465+825dup | |
| ENST00000464645.5:n.89+121_89+136dup | ||
| ENST00000474148.5:n.1749+810_1749+825dup | ||
| ENST00000479942.5:n.1100+810_1100+825dup | ||
| ENST00000492298.5:n.475+810_475+825dup | ||
| ENST00000498620.5:n.461+810_461+825dup | ||
| NM_001190266.1:c.702+810_702+825dup | NP_001177195.1:n.702+810_702+825dup | |
| NM_001190267.1:c.606+810_606+825dup | NP_001177196.1:n.606+810_606+825dup | |
| NM_017974.3:c.897+810_897+825dup | NP_060444.3:n.897+810_897+825dup | |
| NM_030803.6:c.954+810_954+825dup | NP_110430.5:n.954+810_954+825dup | |
| NM_198890.2:c.465+810_465+825dup | NP_942593.2:n.465+810_465+825dup | |
| XM_005246082.1:c.1005+810_1005+825dup | XP_005246139.1:n.1005+810_1005+825dup | |
| XM_005246084.1:c.573+810_573+825dup | XP_005246141.1:n.573+810_573+825dup | |
| XM_005246086.1:c.522+810_522+825dup | XP_005246143.1:n.522+810_522+825dup | |
| XM_006712608.1:c.753+810_753+825dup | XP_006712671.1:n.753+810_753+825dup | |
| XR_241242.1:n.1199+810_1199+825dup | ||
| NM_001363742.1:c.1005+810_1005+825dup | NP_001350671.1:n.1005+810_1005+825dup | |
| XM_005246084.2:c.573+810_573+825dup | XP_005246141.1:n.573+810_573+825dup | |
| XM_005246086.2:c.522+810_522+825dup | XP_005246143.1:n.522+810_522+825dup | |
| XM_006712608.3:c.753+810_753+825dup | XP_006712671.1:n.753+810_753+825dup | |
| XR_001738801.2:n.1135+810_1135+825dup | ||
| XR_241242.3:n.1186+810_1186+825dup | ||
| NM_030803.7:c.954+810_954+825dup MANE Select | NP_110430.5:n.954+810_954+825dup | |
| NM_001190266.2:c.702+810_702+825dup | NP_001177195.1:n.702+810_702+825dup | |
| NM_001190267.2:c.606+810_606+825dup | NP_001177196.1:n.606+810_606+825dup | |
| NM_001363742.2:c.1005+810_1005+825dup | NP_001350671.1:n.1005+810_1005+825dup | |
| NM_017974.4:c.897+810_897+825dup | NP_060444.3:n.897+810_897+825dup | |
| NM_198890.3:c.465+810_465+825dup | NP_942593.2:n.465+810_465+825dup |