Linked Data
dbSNP Id:
rs56130510
gnomAD v2:
2-215657182-T-TAAAAAAAAA
gnomAD v3:
2-214792458-T-TAAAAAAAAA
gnomAD v4:
2-214792458-T-TAAAAAAAAA
MyVariant Identifiers:
chr2:g.215657185_215657186insAAAAAAAAA (hg19)
chr2:g.214792461_214792462insAAAAAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214792466_214792474dup , CM000664.2:g.214792466_214792474dup | GRCh38 |
| NC_000002.11:g.215657190_215657198dup , CM000664.1:g.215657190_215657198dup | GRCh37 |
| NC_000002.10:g.215365435_215365443dup | NCBI36 |
| NG_012047.2:g.22238_22246dup | |
| NG_012047.3:g.22245_22253dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.216-22_216-14dup MANE Select | ENSP00000260947.4:n.216-22_216-14dup | |
| ENST00000421162.2:c.215+4594_215+4602dup | ENSP00000392245.2:n.215+4594_215+4602dup | |
| ENST00000613192.2:c.158+16945_158+16953dup | ENSP00000483275.2:n.158+16945_158+16953dup | |
| ENST00000613374.5:c.158+16945_158+16953dup | ENSP00000484464.1:n.158+16945_158+16953dup | |
| ENST00000613706.5:c.216-22_216-14dup | ENSP00000484976.2:n.216-22_216-14dup | |
| ENST00000617164.5:c.159-22_159-14dup | ENSP00000480470.1:n.159-22_159-14dup | |
| ENST00000619009.5:c.216-22_216-14dup | ENSP00000482293.1:n.216-22_216-14dup | |
| ENST00000650978.1:c.58-22_58-14dup | ||
| ENST00000260947.8:c.216-22_216-14dup | ENSP00000260947.4:n.216-22_216-14dup | |
| ENST00000421162.1:c.215+4594_215+4602dup | ENSP00000392245.1:n.215+4594_215+4602dup | |
| ENST00000455743.5:c.215+4594_215+4602dup | ENSP00000412186.1:n.215+4594_215+4602dup | |
| ENST00000471787.1:n.260-10958_260-10950dup | ||
| ENST00000613192.1:c.73+16945_73+16953dup | ENSP00000483275.1:n.73+16945_73+16953dup | |
| ENST00000613374.4:c.158+16945_158+16953dup | ENSP00000484464.1:n.158+16945_158+16953dup | |
| ENST00000613706.4:c.215+4594_215+4602dup | ENSP00000484976.1:n.215+4594_215+4602dup | |
| ENST00000617164.4:c.159-22_159-14dup | ENSP00000480470.1:n.159-22_159-14dup | |
| ENST00000619009.4:c.216-22_216-14dup | ENSP00000482293.1:n.216-22_216-14dup | |
| ENST00000620057.4:c.216-22_216-14dup | ENSP00000481988.1:n.216-22_216-14dup | |
| NM_000465.3:c.216-22_216-14dup | NP_000456.2:n.216-22_216-14dup | |
| NM_001282543.1:c.159-22_159-14dup | NP_001269472.1:n.159-22_159-14dup | |
| NM_001282545.1:c.215+4594_215+4602dup | NP_001269474.1:n.215+4594_215+4602dup | |
| NM_001282548.1:c.158+16945_158+16953dup | NP_001269477.1:n.158+16945_158+16953dup | |
| NM_001282549.1:c.216-22_216-14dup | NP_001269478.1:n.216-22_216-14dup | |
| NR_104212.1:n.357+4594_357+4602dup | ||
| NR_104215.1:n.301-10958_301-10950dup | ||
| NR_104216.1:n.358-22_358-14dup | ||
| XM_011511567.1:c.162-22_162-14dup | XP_011509869.1:n.162-22_162-14dup | |
| XM_011511568.1:c.216-22_216-14dup | XP_011509870.1:n.216-22_216-14dup | |
| XM_017004613.1:c.315-22_315-14dup | XP_016860102.1:n.315-22_315-14dup | |
| XM_017004614.1:c.315-22_315-14dup | XP_016860103.1:n.315-22_315-14dup | |
| XR_002959322.1:n.406-22_406-14dup | ||
| NM_000465.4:c.216-22_216-14dup MANE Select | NP_000456.2:n.216-22_216-14dup | |
| NM_001282543.2:c.159-22_159-14dup | NP_001269472.1:n.159-22_159-14dup | |
| NM_001282545.2:c.215+4594_215+4602dup | NP_001269474.1:n.215+4594_215+4602dup | |
| NM_001282548.2:c.158+16945_158+16953dup | NP_001269477.1:n.158+16945_158+16953dup | |
| NM_001282549.2:c.216-22_216-14dup | NP_001269478.1:n.216-22_216-14dup | |
| NR_104212.2:n.329+4594_329+4602dup | ||
| NR_104215.2:n.273-10958_273-10950dup | ||
| NR_104216.2:n.330-22_330-14dup |