Linked Data
dbSNP Id:
rs752636365
gnomAD v2:
2-225368581-C-CTACAAAAG
gnomAD v3:
2-224503864-C-CTACAAAAG
gnomAD v4:
2-224503864-C-CTACAAAAG
MyVariant Identifiers:
chr2:g.225368581_225368582insTACAAAAG (hg19)
chr2:g.224503864_224503865insTACAAAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224503865_224503872dup , CM000664.2:g.224503865_224503872dup | GRCh38 |
| NC_000002.11:g.225368582_225368589dup , CM000664.1:g.225368582_225368589dup | GRCh37 |
| NC_000002.10:g.225076826_225076833dup | NCBI36 |
| NG_032169.1:g.86526_86533dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264414.9:c.1207-50_1207-43dup MANE Select | ENSP00000264414.4:n.1207-50_1207-43dup | |
| ENST00000264414.8:c.1207-50_1207-43dup | ENSP00000264414.4:n.1207-50_1207-43dup | |
| ENST00000344951.8:c.1009-50_1009-43dup | ENSP00000343601.4:n.1009-50_1009-43dup | |
| ENST00000409096.5:c.1135-50_1135-43dup | ENSP00000387200.1:n.1135-50_1135-43dup | |
| ENST00000409777.5:c.1135-50_1135-43dup | ENSP00000386525.1:n.1135-50_1135-43dup | |
| ENST00000481135.1:n.453_460dup | ||
| ENST00000617432.4:c.-70-50_-70-43dup | ENSP00000477851.1:n.-70-50_-70-43dup | |
| NM_001257197.1:c.1009-50_1009-43dup | NP_001244126.1:n.1009-50_1009-43dup | |
| NM_001257198.1:c.1225-50_1225-43dup | NP_001244127.1:n.1225-50_1225-43dup | |
| NM_003590.4:c.1207-50_1207-43dup | NP_003581.1:n.1207-50_1207-43dup | |
| XM_006712800.2:c.1174-50_1174-43dup | XP_006712863.2:n.1174-50_1174-43dup | |
| XM_011511994.1:c.1060-50_1060-43dup | XP_011510296.1:n.1060-50_1060-43dup | |
| XM_011511995.1:c.1165-50_1165-43dup | XP_011510297.1:n.1165-50_1165-43dup | |
| XM_011511996.1:c.1015-50_1015-43dup | XP_011510298.1:n.1015-50_1015-43dup | |
| XM_011511997.1:c.907-50_907-43dup | XP_011510299.1:n.907-50_907-43dup | |
| XM_011511994.3:c.1060-50_1060-43dup | XP_011510296.1:n.1060-50_1060-43dup | |
| XM_011511996.2:c.1015-50_1015-43dup | XP_011510298.1:n.1015-50_1015-43dup | |
| NM_003590.5:c.1207-50_1207-43dup MANE Select | NP_003581.1:n.1207-50_1207-43dup | |
| NM_001257198.2:c.1225-50_1225-43dup | NP_001244127.1:n.1225-50_1225-43dup | |
| NM_001257197.2:c.1009-50_1009-43dup | NP_001244126.1:n.1009-50_1009-43dup |