Linked Data
dbSNP Id:
rs552388605
ExAC:
2:157435634 GA / G
gnomAD v2:
2-157435634-GA-G
gnomAD v3:
2-156579122-GA-G
gnomAD v4:
2-156579122-GA-G
COSMIC:
COSM5801045
MyVariant Identifiers:
chr2:g.157435635del (hg19)
chr2:g.156579124del (hg38)
chr2:g.156579123del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156579125del , CM000664.2:g.156579125del | GRCh38 |
| NC_000002.11:g.157435637del , CM000664.1:g.157435637del | GRCh37 |
| NC_000002.10:g.157143883del | NCBI36 |
| NG_016606.1:g.148673del | |
| NG_016606.2:g.148673del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438166.7:c.1920del MANE Select | ENSP00000409708.2:p.Gly641AlafsTer12 | |
| ENST00000310454.10:c.1920del | ENSP00000308610.5:p.Gly641AlafsTer12 | |
| ENST00000409125.8:c.1542del | ENSP00000386484.5:p.Gly515AlafsTer12 | |
| ENST00000409674.5:c.1920del | ENSP00000386425.1:p.Gly641AlafsTer12 | |
| ENST00000409861.5:c.1920del | ENSP00000386626.1:p.Gly641AlafsTer12 | |
| ENST00000438166.6:c.1920del | ENSP00000409708.2:p.Gly641AlafsTer12 | |
| ENST00000464846.5:n.358del | ||
| ENST00000492005.1:n.43del | ||
| ENST00000540309.5:c.*34del | ENSP00000440892.1:n.*34del | |
| NM_000408.4:c.1920del | NP_000399.3:p.Gly641AlafsTer12 | |
| NM_001083112.2:c.1920del | NP_001076581.2:p.Gly641AlafsTer12 | |
| XM_005246469.1:c.1920del | XP_005246526.1:p.Gly641AlafsTer12 | |
| XM_005246470.3:c.1818del | XP_005246527.1:p.Gly607AlafsTer12 | |
| XM_011510977.1:c.1920del | XP_011509279.1:p.Gly641AlafsTer12 | |
| XM_011510978.1:c.1818del | XP_011509280.1:p.Gly607AlafsTer12 | |
| XM_011510979.1:c.1542del | XP_011509281.1:p.Gly515AlafsTer12 | |
| XM_011510980.1:c.1239del | XP_011509282.1:p.Gly414AlafsTer12 | |
| XM_005246469.2:c.1920del | XP_005246526.1:p.Gly641AlafsTer12 | |
| XM_011510977.2:c.1920del | XP_011509279.1:p.Gly641AlafsTer12 | |
| XM_011510978.2:c.1818del | XP_011509280.1:p.Gly607AlafsTer12 | |
| XM_017003830.1:c.1920del | XP_016859319.1:p.Gly641AlafsTer12 | |
| XM_024452798.1:c.1920del | XP_024308566.1:p.Gly641AlafsTer12 | |
| NM_000408.5:c.1920del MANE Select | NP_000399.3:p.Gly641AlafsTer12 | |
| NM_001083112.3:c.1920del | NP_001076581.2:p.Gly641AlafsTer12 |