Linked Data
ClinVar Variation Id:
333787
dbSNP Id:
rs34184317
ExAC:
2:207013834 G / GA
gnomAD v2:
2-207013834-G-GA
gnomAD v3:
2-206149110-G-GA
gnomAD v4:
2-206149110-G-GA
MyVariant Identifiers:
chr2:g.207013835dupA (hg19)
chr2:g.207013836_207013837insA (hg19)
chr2:g.207013835_207013836insA (hg19)
chr2:g.207013834_207013835insA (hg19)
chr2:g.206149111dupA (hg38)
chr2:g.206149112_206149113insA (hg38)
chr2:g.206149111_206149112insA (hg38)
chr2:g.206149110_206149111insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206149121dup , CM000664.2:g.206149121dup | GRCh38 |
| NC_000002.11:g.207013845dup , CM000664.1:g.207013845dup | GRCh37 |
| NC_000002.10:g.206722090dup | NCBI36 |
| NG_009248.1:g.15353dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233190.11:c.262-15dup MANE Select | ENSP00000233190.5:n.262-15dup | |
| ENST00000233190.10:c.262-15dup | ENSP00000233190.5:n.262-15dup | |
| ENST00000423725.5:c.91-15dup | ENSP00000397760.1:n.91-15dup | |
| ENST00000432169.5:c.6-1277dup | ENSP00000409689.1:n.6-1277dup | |
| ENST00000440274.5:c.154-15dup | ENSP00000409766.1:n.154-15dup | |
| ENST00000449699.5:c.262-15dup | ENSP00000399912.1:n.262-15dup | |
| ENST00000454195.1:c.262-15dup | ENSP00000389413.1:n.262-15dup | |
| ENST00000455934.6:c.304-15dup | ENSP00000392709.2:n.304-15dup | |
| ENST00000456284.5:c.*24-15dup | ENSP00000395553.1:n.*24-15dup | |
| ENST00000457011.5:c.-10-1277dup | ENSP00000400976.1:n.-10-1277dup | |
| NM_001199981.1:c.154-15dup | NP_001186910.1:n.154-15dup | |
| NM_001199982.1:c.6-1277dup | NP_001186911.1:n.6-1277dup | |
| NM_001199983.1:c.91-15dup | NP_001186912.1:n.91-15dup | |
| NM_001199984.1:c.304-15dup | NP_001186913.1:n.304-15dup | |
| NM_005006.6:c.262-15dup | NP_004997.4:n.262-15dup | |
| XM_017004188.2:c.-529-15dup | XP_016859677.1:n.-529-15dup | |
| NM_001199981.2:c.154-15dup | NP_001186910.1:n.154-15dup | |
| NM_001199982.2:c.6-1277dup | NP_001186911.1:n.6-1277dup | |
| NM_001199983.2:c.91-15dup | NP_001186912.1:n.91-15dup | |
| NM_005006.7:c.262-15dup MANE Select | NP_004997.4:n.262-15dup | |
| NM_001199984.2:c.304-15dup | NP_001186913.1:n.304-15dup |