Linked Data
dbSNP Id:
rs761980712
gnomAD v2:
2-25463172-T-TCGAGAAATCG
gnomAD v3:
2-25240303-T-TCGAGAAATCG
gnomAD v4:
2-25240303-T-TCGAGAAATCG
MyVariant Identifiers:
chr2:g.25463172_25463173insCGAGAAATCG (hg19)
chr2:g.25240303_25240304insCGAGAAATCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25240309_25240318dup , CM000664.2:g.25240309_25240318dup | GRCh38 |
| NC_000002.11:g.25463178_25463187dup , CM000664.1:g.25463178_25463187dup | GRCh37 |
| NC_000002.10:g.25316682_25316691dup | NCBI36 |
| NG_029465.2:g.107278_107287dup , LRG_459:g.107278_107287dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.630_639dup | ||
| ENST00000683393.1:c.1457_1466dup | ENSP00000508654.1:n.1457_1466dup | |
| ENST00000683760.1:c.1642_1651dup | ENSP00000507765.1:p.Glu551AlafsTer11 | |
| ENST00000321117.10:c.2311_2320dup MANE Select | ENSP00000324375.5:p.Glu774AlafsTer11 | |
| ENST00000264709.7:c.2311_2320dup | ENSP00000264709.3:p.Glu774AlafsTer11 | |
| ENST00000321117.9:c.2311_2320dup | ENSP00000324375.5:p.Glu774AlafsTer11 | |
| ENST00000380746.8:c.1744_1753dup | ENSP00000370122.4:p.Glu585AlafsTer11 | |
| ENST00000380756.7:c.2311_2320dup | ENSP00000370132.3:p.Glu774AlafsTer8 | |
| ENST00000402667.1:c.1642_1651dup | ENSP00000384237.1:p.Glu551AlafsTer11 | |
| ENST00000461228.1:n.530_539dup | ||
| ENST00000466601.5:n.683_692dup | ||
| ENST00000474887.5:n.630_639dup | ||
| ENST00000482935.5:n.311_320dup | ||
| ENST00000491288.5:n.310+327_310+336dup | ||
| NM_022552.4:c.2311_2320dup , LRG_459t1:c.2311_2320dup | NP_072046.2:p.Glu774AlafsTer11 | |
| NM_153759.3:c.1744_1753dup , LRG_459t2:c.1744_1753dup | NP_715640.2:p.Glu585AlafsTer11 | |
| NM_175629.2:c.2311_2320dup , LRG_459t4:c.2311_2320dup | NP_783328.1:p.Glu774AlafsTer11 | |
| XM_005264175.3:c.2311_2320dup | XP_005264232.1:p.Glu774AlafsTer11 | |
| XM_005264177.3:c.1642_1651dup | XP_005264234.1:p.Glu551AlafsTer11 | |
| XM_006711957.2:c.2311_2320dup | XP_006712020.1:p.Glu774AlafsTer11 | |
| XM_006711958.2:c.1867_1876dup | XP_006712021.1:p.Glu626AlafsTer11 | |
| XM_011532662.1:c.2164_2173dup | XP_011530964.1:p.Glu725AlafsTer11 | |
| XM_011532663.1:c.2146_2155dup | XP_011530965.1:p.Glu719AlafsTer11 | |
| XM_011532664.1:c.2311_2320dup | XP_011530966.1:p.Glu774AlafsTer8 | |
| XM_011532665.1:c.1855_1864dup | XP_011530967.1:p.Glu622AlafsTer11 | |
| XM_011532666.1:c.1783_1792dup | XP_011530968.1:p.Glu598AlafsTer11 | |
| XM_011532667.1:c.1642_1651dup | XP_011530969.1:p.Glu551AlafsTer11 | |
| XM_011532668.1:c.2311_2320dup | XP_011530970.1:p.Glu774AlafsTer8 | |
| NM_001320893.1:c.1855_1864dup | NP_001307822.1:p.Glu622AlafsTer11 | |
| NR_135490.1:n.2649_2658dup | ||
| XM_005264175.5:c.2311_2320dup | XP_005264232.1:p.Glu774AlafsTer11 | |
| XM_005264177.4:c.1642_1651dup | XP_005264234.1:p.Glu551AlafsTer11 | |
| XM_011532662.2:c.2164_2173dup | XP_011530964.1:p.Glu725AlafsTer11 | |
| XM_011532663.2:c.2146_2155dup | XP_011530965.1:p.Glu719AlafsTer11 | |
| XM_011532664.2:c.2311_2320dup | XP_011530966.1:p.Glu774AlafsTer8 | |
| XM_011532666.2:c.1783_1792dup | XP_011530968.1:p.Glu598AlafsTer11 | |
| XM_011532667.3:c.1642_1651dup | XP_011530969.1:p.Glu551AlafsTer11 | |
| XM_017003526.1:c.2311_2320dup | XP_016859015.1:p.Glu774AlafsTer11 | |
| XM_017003527.1:c.1642_1651dup | XP_016859016.1:p.Glu551AlafsTer11 | |
| XR_001738657.1:n.2588_2597dup | ||
| NM_001375819.1:c.1642_1651dup | NP_001362748.1:p.Glu551AlafsTer11 | |
| NR_135490.2:n.2542_2551dup | ||
| NM_022552.5:c.2311_2320dup MANE Select | NP_072046.2:p.Glu774AlafsTer11 |