Linked Data
dbSNP Id:
rs1167670522
MyVariant Identifiers:
chr2:g.97427241_97427242insTGCT (hg19)
chr2:g.96761504_96761505insTGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96761505_96761508dup , CM000664.2:g.96761505_96761508dup | GRCh38 |
| NC_000002.11:g.97427242_97427245dup , CM000664.1:g.97427242_97427245dup | GRCh37 |
| NC_000002.10:g.96790969_96790972dup | NCBI36 |
| NG_016608.1:g.5604_5607dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377075.3:c.506_509dup MANE Select | ENSP00000366275.2:p.Phe171AlafsTer? | |
| ENST00000377075.2:c.506_509dup | ENSP00000366275.2:p.Phe171AlafsTer? | |
| NM_020184.3:c.506_509dup | NP_064569.3:p.Phe171AlafsTer? | |
| XM_005263914.2:c.506_509dup | XP_005263971.1:p.Phe171AlafsTer? | |
| XM_005263915.2:c.506_509dup | XP_005263972.1:p.Phe171AlafsTer? | |
| XM_011510955.1:c.506_509dup | XP_011509257.1:p.Phe171AlafsTer? | |
| XM_011510956.1:c.506_509dup | XP_011509258.1:p.Phe171AlafsTer? | |
| XM_005263914.4:c.506_509dup | XP_005263971.1:p.Phe171AlafsTer? | |
| XM_005263915.4:c.506_509dup | XP_005263972.1:p.Phe171AlafsTer? | |
| XM_011510955.3:c.506_509dup | XP_011509257.1:p.Phe171AlafsTer? | |
| XM_011510956.3:c.506_509dup | XP_011509258.1:p.Phe171AlafsTer? | |
| NM_020184.4:c.506_509dup MANE Select | NP_064569.3:p.Phe171AlafsTer? |