Linked Data
ClinVar Variation Id:
7800
dbSNP Id:
rs766750282
ExAC:
2:166618449 T / TG
gnomAD v2:
2-166618449-T-TG
gnomAD v3:
2-165761939-T-TG
gnomAD v4:
2-165761939-T-TG
MyVariant Identifiers:
chr2:g.166618450dupG (hg19)
chr2:g.166618449_166618450insG (hg19)
chr2:g.165761940dupG (hg38)
chr2:g.165761939_165761940insG (hg38)
PubMed:
PMID:17311862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165761940dup , CM000664.2:g.165761940dup | GRCh38 |
| NC_000002.11:g.166618450dup , CM000664.1:g.166618450dup | GRCh37 |
| NC_000002.10:g.166326696dup | NCBI36 |
| NG_012069.1:g.37354dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392701.8:c.803dup MANE Select | ENSP00000376465.3:p.Thr269AsnfsTer3 | |
| ENST00000392701.7:c.803dup | ENSP00000376465.3:p.Thr269AsnfsTer3 | |
| ENST00000412248.5:c.803dup | ENSP00000412643.1:p.Thr269AsnfsTer3 | |
| ENST00000437849.1:c.191dup | ENSP00000391104.1:p.Thr65AsnfsTer3 | |
| ENST00000463254.1:n.86dup | ||
| NM_004482.3:c.803dup | NP_004473.2:p.Thr269AsnfsTer3 | |
| XM_005246449.1:c.803dup | XP_005246506.1:p.Thr269AsnfsTer3 | |
| XM_006712402.2:c.803dup | XP_006712465.1:p.Thr269AsnfsTer3 | |
| XM_011510929.1:c.803dup | XP_011509231.1:p.Thr269AsnfsTer3 | |
| XM_017003770.1:c.803dup | XP_016859259.1:p.Thr269AsnfsTer3 | |
| XR_002959253.1:n.1144dup | ||
| NM_004482.4:c.803dup MANE Select | NP_004473.2:p.Thr269AsnfsTer3 |