Linked Data
dbSNP Id:
rs1417061164
gnomAD v3:
2-233346816-TGCAAATTTAG-T
gnomAD v4:
2-233346816-TGCAAATTTAG-T
MyVariant Identifiers:
chr2:g.233346817_233346826del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233346817_233346826del , CM000664.2:g.233346817_233346826del | GRCh38 |
| NC_000002.11:g.234255463_234255472del , CM000664.1:g.234255463_234255472del | GRCh37 |
| NC_000002.10:g.233920202_233920211del | NCBI36 |
| NG_009116.1:g.44155_44164del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409110.6:c.1123_1132del MANE Select | ENSP00000386444.1:p.Ala375PhefsTer10 | |
| ENST00000409110.5:c.1123_1132del | ENSP00000386444.1:p.Ala375PhefsTer10 | |
| ENST00000412969.6:n.2343_2352del | ||
| ENST00000471884.5:n.3154_3163del | ||
| ENST00000474220.5:n.329_338del | ||
| ENST00000476500.5:n.6422_6431del | ||
| ENST00000492629.1:n.84_93del | ||
| NM_000541.4:c.1123_1132del | NP_000532.2:p.Ala375PhefsTer10 | |
| XM_011511589.1:c.1123_1132del | XP_011509891.1:p.Ala375PhefsTer10 | |
| XM_011511590.1:c.1123_1132del | XP_011509892.1:p.Ala375PhefsTer10 | |
| XM_011511591.1:c.1113_1122del | XP_011509893.1:p.Met371IlefsTer3 | |
| XM_011511592.1:c.967_976del | XP_011509894.1:p.Ala323PhefsTer10 | |
| XM_011511593.1:c.823_832del | XP_011509895.1:p.Ala275PhefsTer10 | |
| XM_011511594.1:c.751_760del | XP_011509896.1:p.Ala251PhefsTer10 | |
| XM_011511596.1:c.721_730del | XP_011509898.1:p.Ala241PhefsTer10 | |
| XM_011511597.1:c.721_730del | XP_011509899.1:p.Ala241PhefsTer10 | |
| XR_922978.1:n.1440_1449del | ||
| XR_922979.1:n.1444_1453del | ||
| XR_922980.1:n.1539_1548del | ||
| XM_011511593.3:c.823_832del | XP_011509895.1:p.Ala275PhefsTer10 | |
| XM_017004641.1:c.1113_1122del | XP_016860130.1:p.Met371IlefsTer3 | |
| XM_024453036.1:c.711_720del | XP_024308804.1:p.Met237IlefsTer3 | |
| XR_001738882.1:n.1321_1330del | ||
| XR_922980.2:n.1539_1548del | ||
| NM_000541.5:c.1123_1132del MANE Select | NP_000532.2:p.Ala375PhefsTer10 |