Linked Data
ClinVar Variation Id:
60560
dbSNP Id:
rs886037644
gnomAD v4:
15-48142202-C-CT
MyVariant Identifiers:
chr15:g.48434406dupT (hg19)
chr15:g.48434399_48434400insT (hg19)
chr15:g.48142209dupT (hg38)
chr15:g.48142202_48142203insT (hg38)
PubMed:
PMID:23364476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48142209dup , CM000677.2:g.48142209dup | GRCh38 |
| NC_000015.9:g.48434406dup , CM000677.1:g.48434406dup | GRCh37 |
| NC_000015.8:g.46221698dup | NCBI36 |
| NG_011500.1:g.26238dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324324.12:c.*705dup (MYEF2) MANE Select | ENSP00000316950.7:n.*705dup | |
| ENST00000341459.8:c.1361dup (SLC24A5) MANE Select | ENSP00000341550.3:p.Leu454PhefsTer? | |
| ENST00000267836.10:c.*705dup (MYEF2) | ENSP00000267836.6:n.*705dup | |
| ENST00000324324.11:c.*705dup (MYEF2) | ENSP00000316950.7:n.*705dup | |
| ENST00000341459.7:c.1361dup (SLC24A5) | ENSP00000341550.3:p.Leu454PhefsTer? | |
| ENST00000449382.2:c.1181dup (SLC24A5) | ENSP00000389966.2:p.Leu394PhefsTer? | |
| ENST00000558289.5:n.1745dup (MYEF2) | ||
| ENST00000560172.5:c.393-67dup (MYEF2) | ||
| ENST00000560530.5:n.1630dup (MYEF2) | ||
| ENST00000620867.4:c.*705dup (MYEF2) | ENSP00000480281.1:n.*705dup | |
| NM_001301210.1:c.*705dup (MYEF2) | NP_001288139.1:n.*705dup | |
| NM_016132.4:c.*705dup (MYEF2) | NP_057216.2:n.*705dup | |
| NM_205850.2:c.1361dup (SLC24A5) | NP_995322.1:p.Leu454PhefsTer? | |
| XM_005254422.3:c.*705dup (MYEF2) | XP_005254479.2:n.*705dup | |
| XM_005254424.3:c.*705dup (MYEF2) | XP_005254481.2:n.*705dup | |
| XM_005254425.3:c.*860dup (MYEF2) | XP_005254482.2:n.*860dup | |
| XM_006720553.2:c.*705dup (MYEF2) | XP_006720616.1:n.*705dup | |
| XM_011521458.1:c.1382dup (SLC24A5) | XP_011519760.1:p.Leu461PhefsTer? | |
| XM_011521657.1:c.*705dup (MYEF2) | XP_011519959.1:n.*705dup | |
| XM_005254422.4:c.*705dup (MYEF2) | XP_005254479.2:n.*705dup | |
| XM_005254424.4:c.*705dup (MYEF2) | XP_005254481.2:n.*705dup | |
| XM_005254425.4:c.*860dup (MYEF2) | XP_005254482.2:n.*860dup | |
| XM_006720553.3:c.*705dup (MYEF2) | XP_006720616.1:n.*705dup | |
| XM_011521657.2:c.*705dup (MYEF2) | XP_011519959.1:n.*705dup | |
| XM_017022285.1:c.*860dup (MYEF2) | XP_016877774.1:n.*860dup | |
| XM_017022286.1:c.*860dup (MYEF2) | XP_016877775.1:n.*860dup | |
| XM_017022287.1:c.*860dup (MYEF2) | XP_016877776.1:n.*860dup | |
| XM_017022288.1:c.*705dup (MYEF2) | XP_016877777.1:n.*705dup | |
| XM_017022289.1:c.*705dup (MYEF2) | XP_016877778.1:n.*705dup | |
| XM_017022290.1:c.*705dup (MYEF2) | XP_016877779.1:n.*705dup | |
| XM_017022291.1:c.*860dup (MYEF2) | XP_016877780.1:n.*860dup | |
| XM_017022292.1:c.*860dup (MYEF2) | XP_016877781.1:n.*860dup | |
| NM_016132.5:c.*705dup (MYEF2) MANE Select | NP_057216.3:n.*705dup | |
| NM_001301210.2:c.*705dup (MYEF2) | NP_001288139.2:n.*705dup | |
| NM_205850.3:c.1361dup (SLC24A5) MANE Select | NP_995322.1:p.Leu454PhefsTer? |