Linked Data
dbSNP Id:
rs144803882
MyVariant Identifiers:
chr2:g.157435346_157435347insAA (hg19)
chr2:g.156578834_156578835insAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156578840_156578841dup , CM000664.2:g.156578840_156578841dup | GRCh38 |
| NC_000002.11:g.157435352_157435353dup , CM000664.1:g.157435352_157435353dup | GRCh37 |
| NC_000002.10:g.157143598_157143599dup | NCBI36 |
| NG_016606.1:g.148388_148389dup | |
| NG_016606.2:g.148388_148389dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438166.7:c.1768-49_1768-48dup MANE Select | ENSP00000409708.2:n.1768-49_1768-48dup | |
| ENST00000310454.10:c.1768-49_1768-48dup | ENSP00000308610.5:n.1768-49_1768-48dup | |
| ENST00000409125.8:c.1390-49_1390-48dup | ENSP00000386484.5:n.1390-49_1390-48dup | |
| ENST00000409674.5:c.1768-49_1768-48dup | ENSP00000386425.1:n.1768-49_1768-48dup | |
| ENST00000409861.5:c.1768-49_1768-48dup | ENSP00000386626.1:n.1768-49_1768-48dup | |
| ENST00000438166.6:c.1768-49_1768-48dup | ENSP00000409708.2:n.1768-49_1768-48dup | |
| ENST00000464846.5:n.122-49_122-48dup | ||
| ENST00000540309.5:c.1135-246_1135-245dup | ENSP00000440892.1:n.1135-246_1135-245dup | |
| NM_000408.4:c.1768-49_1768-48dup | NP_000399.3:n.1768-49_1768-48dup | |
| NM_001083112.2:c.1768-49_1768-48dup | NP_001076581.2:n.1768-49_1768-48dup | |
| XM_005246469.1:c.1768-49_1768-48dup | XP_005246526.1:n.1768-49_1768-48dup | |
| XM_005246470.3:c.1666-49_1666-48dup | XP_005246527.1:n.1666-49_1666-48dup | |
| XM_011510977.1:c.1768-49_1768-48dup | XP_011509279.1:n.1768-49_1768-48dup | |
| XM_011510978.1:c.1666-49_1666-48dup | XP_011509280.1:n.1666-49_1666-48dup | |
| XM_011510979.1:c.1390-49_1390-48dup | XP_011509281.1:n.1390-49_1390-48dup | |
| XM_011510980.1:c.1087-49_1087-48dup | XP_011509282.1:n.1087-49_1087-48dup | |
| XM_005246469.2:c.1768-49_1768-48dup | XP_005246526.1:n.1768-49_1768-48dup | |
| XM_011510977.2:c.1768-49_1768-48dup | XP_011509279.1:n.1768-49_1768-48dup | |
| XM_011510978.2:c.1666-49_1666-48dup | XP_011509280.1:n.1666-49_1666-48dup | |
| XM_017003830.1:c.1768-49_1768-48dup | XP_016859319.1:n.1768-49_1768-48dup | |
| XM_024452798.1:c.1768-49_1768-48dup | XP_024308566.1:n.1768-49_1768-48dup | |
| NM_000408.5:c.1768-49_1768-48dup MANE Select | NP_000399.3:n.1768-49_1768-48dup | |
| NM_001083112.3:c.1768-49_1768-48dup | NP_001076581.2:n.1768-49_1768-48dup |