Linked Data
ClinVar Variation Id:
446697
dbSNP Id:
rs750338419
ExAC:
2:27682266 A / AT
gnomAD v2:
2-27682266-A-AT
gnomAD v4:
2-27459399-A-AT
MyVariant Identifiers:
chr2:g.27682267dup (hg19)
chr2:g.27682266_27682267insT (hg19)
chr2:g.27459400dup (hg38)
chr2:g.27459399_27459400insT (hg38)
PubMed:
PMID:29068549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27459400dup , CM000664.2:g.27459400dup | GRCh38 |
| NC_000002.11:g.27682267dup , CM000664.1:g.27682267dup | GRCh37 |
| NC_000002.10:g.27535771dup | NCBI36 |
| NG_034068.1:g.35412dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.2765dup MANE Select | ENSP00000260570.3:p.Tyr922Ter | |
| ENST00000674701.1:c.*1938dup | ENSP00000502275.1:n.*1938dup | |
| ENST00000674824.1:c.*780dup | ENSP00000501824.1:n.*780dup | |
| ENST00000674932.1:c.*2362dup | ENSP00000501967.1:n.*2362dup | |
| ENST00000675410.1:c.2084dup | ENSP00000502030.1:p.Tyr695Ter | |
| ENST00000675690.1:c.2699dup | ENSP00000502283.1:p.Tyr900Ter | |
| ENST00000676119.1:c.*2055dup | ENSP00000501701.1:n.*2055dup | |
| ENST00000260570.7:c.2765dup | ENSP00000260570.3:p.Tyr922Ter | |
| ENST00000507184.5:n.2897dup | ||
| NM_015662.2:c.2765dup | NP_056477.1:p.Tyr922Ter | |
| XM_005264254.1:c.2699dup | XP_005264311.1:p.Tyr900Ter | |
| XM_006711986.2:c.2702dup | XP_006712049.1:p.Tyr901Ter | |
| XM_006711987.1:c.2765dup | XP_006712050.1:p.Tyr922Ter | |
| XM_011532757.1:c.2084dup | XP_011531059.1:p.Tyr695Ter | |
| XM_011532758.1:c.2765dup | XP_011531060.1:p.Tyr922Ter | |
| XM_011532759.1:c.1205dup | XP_011531061.1:p.Tyr402Ter | |
| XM_011532760.1:c.830dup | XP_011531062.1:p.Tyr277Ter | |
| XM_006711986.3:c.2702dup | XP_006712049.1:p.Tyr901Ter | |
| XM_011532757.2:c.2084dup | XP_011531059.1:p.Tyr695Ter | |
| XM_011532759.2:c.1205dup | XP_011531061.1:p.Tyr402Ter | |
| XM_011532760.2:c.830dup | XP_011531062.1:p.Tyr277Ter | |
| XM_017003790.1:c.2636dup | XP_016859279.1:p.Tyr879Ter | |
| XM_017003791.1:c.2084dup | XP_016859280.1:p.Tyr695Ter | |
| XM_017003792.1:c.2765dup | XP_016859281.1:p.Tyr922Ter | |
| XM_017003793.1:c.902dup | XP_016859282.1:p.Tyr301Ter | |
| XM_017003794.1:c.902dup | XP_016859283.1:p.Tyr301Ter | |
| XM_017003795.1:c.698dup | XP_016859284.1:p.Tyr233Ter | |
| XR_001738698.1:n.2820dup | ||
| NM_015662.3:c.2765dup MANE Select | NP_056477.1:p.Tyr922Ter |