Linked Data
ClinVar Variation Id:
253174
dbSNP Id:
rs879255650
MyVariant Identifiers:
chr2:g.207175500_207175501dupTT (hg19)
chr2:g.206310776_206310777dupTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206310776_206310777dup , CM000664.2:g.206310776_206310777dup | GRCh38 |
| NC_000002.11:g.207175500_207175501dup , CM000664.1:g.207175500_207175501dup | GRCh37 |
| NC_000002.10:g.206883745_206883746dup | NCBI36 |
| NG_045219.1:g.41136_41137dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374423.9:c.6248_6249dup MANE Select | ENSP00000363545.3:p.Asn2084LeufsTer25 | |
| ENST00000648361.1:c.*6144_*6145dup | ENSP00000497292.1:n.*6144_*6145dup | |
| ENST00000649285.1:c.*5973_*5974dup | ENSP00000497978.1:n.*5973_*5974dup | |
| ENST00000649650.1:c.6248_6249dup | ENSP00000497308.1:p.Asn2084LeufsTer25 | |
| ENST00000649998.1:c.*3728_*3729dup | ENSP00000497521.1:n.*3728_*3729dup | |
| ENST00000374423.7:c.6248_6249dup | ENSP00000363545.3:p.Asn2084LeufsTer25 | |
| ENST00000611847.1:c.6242_6243dup | ENSP00000478626.1:p.Asn2082LeufsTer25 | |
| NM_001285549.1:c.6242_6243dup | NP_001272478.1:p.Asn2082LeufsTer25 | |
| NM_020923.2:c.6248_6249dup | NP_065974.1:p.Asn2084LeufsTer25 | |
| XM_005246711.2:c.6248_6249dup | XP_005246768.1:p.Asn2084LeufsTer25 | |
| XM_005246712.3:c.6248_6249dup | XP_005246769.1:p.Asn2084LeufsTer25 | |
| XM_005246713.2:c.6248_6249dup | XP_005246770.1:p.Asn2084LeufsTer25 | |
| XM_006712656.2:c.6248_6249dup | XP_006712719.1:p.Asn2084LeufsTer25 | |
| XM_011511532.1:c.6248_6249dup | XP_011509834.1:p.Asn2084LeufsTer25 | |
| XM_011511533.1:c.6248_6249dup | XP_011509835.1:p.Asn2084LeufsTer25 | |
| XM_011511534.1:c.6248_6249dup | XP_011509836.1:p.Asn2084LeufsTer25 | |
| XM_011511535.1:c.6248_6249dup | XP_011509837.1:p.Asn2084LeufsTer25 | |
| XM_011511536.1:c.6242_6243dup | XP_011509838.1:p.Asn2082LeufsTer25 | |
| XM_011511537.1:c.5909-7_5909-6dup | XP_011509839.1:n.5909-7_5909-6dup | |
| XM_005246711.4:c.6248_6249dup | XP_005246768.1:p.Asn2084LeufsTer25 | |
| XM_005246712.5:c.6248_6249dup | XP_005246769.1:p.Asn2084LeufsTer25 | |
| XM_005246713.3:c.6248_6249dup | XP_005246770.1:p.Asn2084LeufsTer25 | |
| XM_011511532.3:c.6248_6249dup | XP_011509834.1:p.Asn2084LeufsTer25 | |
| XM_011511533.2:c.6248_6249dup | XP_011509835.1:p.Asn2084LeufsTer25 | |
| XM_011511534.2:c.6248_6249dup | XP_011509836.1:p.Asn2084LeufsTer25 | |
| XM_011511535.3:c.6248_6249dup | XP_011509837.1:p.Asn2084LeufsTer25 | |
| XM_017004573.2:c.6242_6243dup | XP_016860062.1:p.Asn2082LeufsTer25 | |
| XM_017004574.1:c.6242_6243dup | XP_016860063.1:p.Asn2082LeufsTer25 | |
| XM_017004575.2:c.5909-7_5909-6dup | XP_016860064.1:n.5909-7_5909-6dup | |
| XM_017004576.1:c.3413_3414dup | XP_016860065.1:p.Asn1139LeufsTer25 | |
| NM_020923.3:c.6248_6249dup MANE Select | NP_065974.1:p.Asn2084LeufsTer25 | |
| NM_001285549.2:c.6242_6243dup | NP_001272478.1:p.Asn2082LeufsTer25 | |
| NM_001369654.1:c.6248_6249dup | NP_001356583.1:p.Asn2084LeufsTer25 |