Linked Data
ClinVar Variation Id:
218169
dbSNP Id:
rs769022521
ExAC:
2:44145164 C / CT
gnomAD v2:
2-44145164-C-CT
gnomAD v3:
2-43918025-C-CT
gnomAD v4:
2-43918025-C-CT
MyVariant Identifiers:
chr2:g.44145165dupT (hg19)
chr2:g.44145165_44145166insT (hg19)
chr2:g.44145164_44145165insT (hg19)
chr2:g.43918026dupT (hg38)
chr2:g.43918026_43918027insT (hg38)
chr2:g.43918025_43918026insT (hg38)
PubMed:
PMID:26510951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918033dup , CM000664.2:g.43918033dup | GRCh38 |
| NC_000002.11:g.44145172dup , CM000664.1:g.44145172dup | GRCh37 |
| NC_000002.10:g.43998676dup | NCBI36 |
| NG_008247.1:g.82980dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681993.1:n.699dup | ||
| ENST00000682295.1:c.303+230dup | ENSP00000507499.1:n.303+230dup | |
| ENST00000682303.1:c.*2933dup | ENSP00000508325.1:n.*2933dup | |
| ENST00000682308.1:c.3147dup | ENSP00000507056.1:p.Gly1050ArgfsTer4 | |
| ENST00000682480.1:c.3165dup | ENSP00000508344.1:p.Gly1056ArgfsTer4 | |
| ENST00000682546.1:c.3144dup | ENSP00000508188.1:p.Gly1049ArgfsTer4 | |
| ENST00000682585.1:c.3147dup | ENSP00000506885.1:p.Gly1050ArgfsTer4 | |
| ENST00000682595.1:n.3731dup | ||
| ENST00000682607.1:c.1565dup | ||
| ENST00000682779.1:c.3138dup | ENSP00000507947.1:p.Gly1047ArgfsTer4 | |
| ENST00000682845.1:n.2249dup | ||
| ENST00000682885.1:c.3102dup | ENSP00000508036.1:p.Gly1035ArgfsTer4 | |
| ENST00000682933.1:n.3221dup | ||
| ENST00000683072.1:n.3731dup | ||
| ENST00000683080.1:n.766dup | ||
| ENST00000683125.1:c.3255dup | ENSP00000507939.1:p.Gly1086ArgfsTer4 | |
| ENST00000683213.1:c.3150dup | ENSP00000507751.1:p.Gly1051ArgfsTer4 | |
| ENST00000683220.1:c.3177dup | ENSP00000507151.1:p.Gly1060ArgfsTer4 | |
| ENST00000683329.1:n.3950dup | ||
| ENST00000683346.1:c.*3022dup | ENSP00000507458.1:n.*3022dup | |
| ENST00000683409.1:n.1754dup | ||
| ENST00000683459.1:n.3734dup | ||
| ENST00000683590.1:c.2897-5468dup | ENSP00000506820.1:n.2897-5468dup | |
| ENST00000683623.1:c.3054dup | ENSP00000507702.1:p.Gly1019ArgfsTer4 | |
| ENST00000683645.1:n.3698dup | ||
| ENST00000683796.1:c.*3019dup | ENSP00000508221.1:n.*3019dup | |
| ENST00000683802.1:n.6072dup | ||
| ENST00000683833.1:c.3138dup | ENSP00000506852.1:p.Gly1047ArgfsTer4 | |
| ENST00000683994.1:c.3147dup | ENSP00000507181.1:p.Gly1050ArgfsTer4 | |
| ENST00000684290.1:c.*683dup | ENSP00000507243.1:n.*683dup | |
| ENST00000684306.1:c.*3060dup | ENSP00000508384.1:n.*3060dup | |
| ENST00000684341.1:n.3167dup | ||
| ENST00000684383.1:c.*2785dup | ENSP00000506863.1:n.*2785dup | |
| ENST00000684619.1:c.*3019dup | ENSP00000508088.1:n.*3019dup | |
| ENST00000684705.1:n.268dup | ||
| ENST00000684743.1:n.4178dup | ||
| ENST00000260665.12:c.3147dup MANE Select | ENSP00000260665.7:p.Gly1050ArgfsTer4 | |
| ENST00000260665.11:c.3147dup | ENSP00000260665.7:p.Gly1050ArgfsTer4 | |
| NM_133259.3:c.3147dup | NP_573566.2:p.Gly1050ArgfsTer4 | |
| XM_006711915.2:c.3069dup | XP_006711978.1:p.Gly1024ArgfsTer4 | |
| XM_006711916.2:c.3147dup | XP_006711979.1:p.Arg1050LysfsTer8 | |
| XM_011532473.1:c.3147dup | XP_011530775.1:p.Gly1050ArgfsTer4 | |
| XM_011532474.1:c.3147dup | XP_011530776.1:p.Gly1050ArgfsTer4 | |
| XM_006711916.3:c.3147dup | XP_006711979.1:p.Arg1050LysfsTer8 | |
| XM_017003117.1:c.3069dup | XP_016858606.1:p.Gly1024ArgfsTer4 | |
| XR_002958896.1:n.3189dup | ||
| NM_133259.4:c.3147dup MANE Select | NP_573566.2:p.Gly1050ArgfsTer4 |