Linked Data
dbSNP Id:
rs1553350743
gnomAD v2:
2-39939220-A-AGTGTGTGTGTGTGT
gnomAD v3:
2-39712080-A-AGTGTGTGTGTGTGT
gnomAD v4:
2-39712080-A-AGTGTGTGTGTGTGT
MyVariant Identifiers:
chr2:g.39939220_39939221insGTGTGTGTGTGTGT (hg19)
chr2:g.39712080_39712081insGTGTGTGTGTGTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39712081_39712082insTGTGTGTGTGTGTG , CM000664.2:g.39712081_39712082insTGTGTGTGTGTGTG | GRCh38 |
| NC_000002.11:g.39939221_39939222insTGTGTGTGTGTGTG , CM000664.1:g.39939221_39939222insTGTGTGTGTGTGTG | GRCh37 |
| NC_000002.10:g.39792725_39792726insTGTGTGTGTGTGTG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281961.3:c.652+4895_652+4896insTGTGTGTGTGTGTG MANE Select | ENSP00000281961.2:n.652+4895_652+4896insTGTGTGTGTGTGTG | |
| ENST00000281961.2:c.652+4895_652+4896insTGTGTGTGTGTGTG | ENSP00000281961.2:n.652+4895_652+4896insTGTGTGTGTGTGTG | |
| ENST00000413011.5:n.371+4895_371+4896insTGTGTGTGTGTGTG | ||
| ENST00000482239.5:n.395+4895_395+4896insTGTGTGTGTGTGTG | ||
| ENST00000495402.1:n.431+4895_431+4896insTGTGTGTGTGTGTG | ||
| ENST00000618232.1:c.*42-4929_*42-4928insTGTGTGTGTGTGTG | ENSP00000477622.1:n.*42-4929_*42-4928insTGTGTGTGTGTGTG | |
| NM_001167959.1:c.106+4895_106+4896insTGTGTGTGTGTGTG | NP_001161431.1:n.106+4895_106+4896insTGTGTGTGTGTGTG | |
| NM_152390.2:c.652+4895_652+4896insTGTGTGTGTGTGTG | NP_689603.2:n.652+4895_652+4896insTGTGTGTGTGTGTG | |
| XM_005264144.1:c.515-4929_515-4928insTGTGTGTGTGTGTG | XP_005264201.1:n.515-4929_515-4928insTGTGTGTGTGTGTG | |
| XM_005264145.1:c.401-4929_401-4928insTGTGTGTGTGTGTG | XP_005264202.1:n.401-4929_401-4928insTGTGTGTGTGTGTG | |
| XM_017003369.1:c.*539_*540insTGTGTGTGTGTGTG | XP_016858858.1:n.*539_*540insTGTGTGTGTGTGTG | |
| XM_017003370.2:c.106+4895_106+4896insTGTGTGTGTGTGTG | XP_016858859.1:n.106+4895_106+4896insTGTGTGTGTGTGTG | |
| XM_017003371.1:c.106+4895_106+4896insTGTGTGTGTGTGTG | XP_016858860.1:n.106+4895_106+4896insTGTGTGTGTGTGTG | |
| XM_024452702.1:c.401-23148_401-23147insTGTGTGTGTGTGTG | XP_024308470.1:n.401-23148_401-23147insTGTGTGTGTGTGTG | |
| XM_024452703.1:c.106+4895_106+4896insTGTGTGTGTGTGTG | XP_024308471.1:n.106+4895_106+4896insTGTGTGTGTGTGTG | |
| XM_024452704.1:c.106+4895_106+4896insTGTGTGTGTGTGTG | XP_024308472.1:n.106+4895_106+4896insTGTGTGTGTGTGTG | |
| XM_024452705.1:c.106+4895_106+4896insTGTGTGTGTGTGTG | XP_024308473.1:n.106+4895_106+4896insTGTGTGTGTGTGTG | |
| NM_152390.3:c.652+4895_652+4896insTGTGTGTGTGTGTG MANE Select | NP_689603.2:n.652+4895_652+4896insTGTGTGTGTGTGTG | |
| NM_001167959.2:c.106+4895_106+4896insTGTGTGTGTGTGTG | NP_001161431.1:n.106+4895_106+4896insTGTGTGTGTGTGTG |