Linked Data
dbSNP Id:
rs201758168
MyVariant Identifiers:
chr2:g.47230120_47230121insTGCTGC (hg19)
chr2:g.47002981_47002982insTGCTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47002991_47002996dup , CM000664.2:g.47002991_47002996dup | GRCh38 |
| NC_000002.11:g.47230130_47230135dup , CM000664.1:g.47230130_47230135dup | GRCh37 |
| NC_000002.10:g.47083634_47083639dup | NCBI36 |
| NG_034143.1:g.91863_91868dup | |
| NG_034143.2:g.91863_91868dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.2899-2931_2899-2926dup | ||
| ENST00000319190.11:c.1066-2931_1066-2926dup MANE Select | ENSP00000316699.5:n.1066-2931_1066-2926dup | |
| ENST00000319190.9:c.1066-2931_1066-2926dup | ENSP00000316699.5:n.1066-2931_1066-2926dup | |
| ENST00000394850.6:c.1066-2931_1066-2926dup | ENSP00000378320.2:n.1066-2931_1066-2926dup | |
| ENST00000409245.5:c.964-2931_964-2926dup | ENSP00000386307.1:n.964-2931_964-2926dup | |
| ENST00000409825.5:c.1014-2931_1014-2926dup | ||
| ENST00000441914.5:c.907-2931_907-2926dup | ||
| ENST00000461601.5:n.1391-2931_1391-2926dup | ||
| ENST00000474321.6:n.550-2931_550-2926dup | ||
| ENST00000484061.5:n.349-2931_349-2926dup | ||
| ENST00000491786.5:n.470-2931_470-2926dup | ||
| NM_001288951.1:c.1066-2931_1066-2926dup | NP_001275880.1:n.1066-2931_1066-2926dup | |
| NM_001288953.1:c.964-2931_964-2926dup | NP_001275882.1:n.964-2931_964-2926dup | |
| NM_001288955.1:c.4-2931_4-2926dup | NP_001275884.1:n.4-2931_4-2926dup | |
| NM_020458.3:c.1066-2931_1066-2926dup | NP_065191.2:n.1066-2931_1066-2926dup | |
| XM_005264439.2:c.709-2931_709-2926dup | XP_005264496.1:n.709-2931_709-2926dup | |
| XM_011532998.1:c.709-2931_709-2926dup | XP_011531300.1:n.709-2931_709-2926dup | |
| XM_011532999.1:c.1066-2931_1066-2926dup | XP_011531301.1:n.1066-2931_1066-2926dup | |
| XM_011533000.1:c.286-2931_286-2926dup | XP_011531302.1:n.286-2931_286-2926dup | |
| XR_939696.1:n.1371-2931_1371-2926dup | ||
| XM_005264439.4:c.709-2931_709-2926dup | XP_005264496.1:n.709-2931_709-2926dup | |
| XM_011532998.3:c.709-2931_709-2926dup | XP_011531300.1:n.709-2931_709-2926dup | |
| XM_011532999.2:c.1066-2931_1066-2926dup | XP_011531301.1:n.1066-2931_1066-2926dup | |
| XM_011533000.3:c.286-2931_286-2926dup | XP_011531302.1:n.286-2931_286-2926dup | |
| XM_017004524.1:c.1066-2931_1066-2926dup | XP_016860013.1:n.1066-2931_1066-2926dup | |
| XM_017004525.1:c.898-2931_898-2926dup | XP_016860014.1:n.898-2931_898-2926dup | |
| XM_017004526.1:c.1066-2931_1066-2926dup | XP_016860015.1:n.1066-2931_1066-2926dup | |
| XM_017004529.1:c.1066-2931_1066-2926dup | XP_016860018.1:n.1066-2931_1066-2926dup | |
| XM_024453013.1:c.31-2931_31-2926dup | XP_024308781.1:n.31-2931_31-2926dup | |
| XR_001738853.2:n.1378-2931_1378-2926dup | ||
| XR_001738854.1:n.1377-2931_1377-2926dup | ||
| NM_020458.4:c.1066-2931_1066-2926dup MANE Select | NP_065191.2:n.1066-2931_1066-2926dup | |
| NM_001288951.2:c.1066-2931_1066-2926dup | NP_001275880.1:n.1066-2931_1066-2926dup | |
| NM_001288953.2:c.964-2931_964-2926dup | NP_001275882.1:n.964-2931_964-2926dup | |
| NM_001288955.2:c.4-2931_4-2926dup | NP_001275884.1:n.4-2931_4-2926dup |