Linked Data
ClinVar Variation Id:
554666
dbSNP Id:
rs1553311633
gnomAD v4:
2-26191265-C-CTTGT
MyVariant Identifiers:
chr2:g.26191266_26191269dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191267_26191270dup , CM000664.2:g.26191267_26191270dup | GRCh38 |
| NC_000002.11:g.26414136_26414139dup , CM000664.1:g.26414136_26414139dup | GRCh37 |
| NC_000002.10:g.26267640_26267643dup | NCBI36 |
| NG_007121.1:g.58352_58355dup | |
| NG_007121.2:g.58353_58356dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2273_2276dup (HADHA) MANE Select | ENSP00000370023.3:p.Lys760GlnfsTer? | |
| ENST00000492433.2:c.2360_2363dup (HADHA) | ENSP00000438039.2:p.Lys789GlnfsTer? | |
| ENST00000643057.1:c.*2251_*2254dup (HADHA) | ENSP00000493761.1:n.*2251_*2254dup | |
| ENST00000643063.1:c.*1319_*1322dup (HADHA) | ENSP00000495353.1:n.*1319_*1322dup | |
| ENST00000643233.1:c.*2164_*2167dup (HADHA) | ENSP00000493880.1:n.*2164_*2167dup | |
| ENST00000644428.1:c.*897_*900dup (HADHA) | ENSP00000495560.1:n.*897_*900dup | |
| ENST00000645274.1:c.2168_2171dup (HADHA) | ENSP00000493996.1:p.Lys725GlnfsTer? | |
| ENST00000646031.1:c.1632_1635dup (HADHA) | ||
| ENST00000646483.1:c.2139_2142dup (HADHA) | ENSP00000496185.1:n.2139_2142dup | |
| ENST00000380649.7:c.2273_2276dup (HADHA) | ENSP00000370023.3:p.Lys760GlnfsTer? | |
| NM_000182.4:c.2273_2276dup (HADHA) | NP_000173.2:p.Lys760GlnfsTer? | |
| XM_011532567.1:c.1683+3952_1683+3955dup (GAREM2) | XP_011530869.1:n.1683+3952_1683+3955dup | |
| XM_011532567.3:c.1683+3952_1683+3955dup (GAREM2) | XP_011530869.1:n.1683+3952_1683+3955dup | |
| NM_000182.5:c.2273_2276dup (HADHA) MANE Select | NP_000173.2:p.Lys760GlnfsTer? |