Linked Data
ClinVar Variation Id:
370249
ClinVar RCV Id:
RCV000410019
dbSNP Id:
rs1057516348
MyVariant Identifiers:
chr2:g.152506853_152506855delinsGA (hg19)
chr2:g.151650339_151650341delinsGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151650339_151650341delinsGA , CM000664.2:g.151650339_151650341delinsGA | GRCh38 |
| NC_000002.11:g.152506853_152506855delinsGA , CM000664.1:g.152506853_152506855delinsGA | GRCh37 |
| NC_000002.10:g.152215099_152215101delinsGA | NCBI36 |
| NG_009382.2:g.89147_89149delinsTC , LRG_202:g.89147_89149delinsTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397345.8:c.7266_7268delinsTC MANE Select | ENSP00000380505.3:p.Gly2423HisfsTer8 | |
| ENST00000427231.7:c.7266_7268delinsTC MANE Plus Clinical | ENSP00000416578.2:p.Gly2423HisfsTer8 | |
| ENST00000172853.14:c.7266_7268delinsTC | ENSP00000172853.10:p.Gly2423HisfsTer8 | |
| ENST00000397345.7:c.7266_7268delinsTC | ENSP00000380505.3:p.Gly2423HisfsTer8 | |
| ENST00000409198.5:c.7266_7268delinsTC | ENSP00000386259.1:p.Gly2423HisfsTer8 | |
| ENST00000427231.6:c.7266_7268delinsTC | ENSP00000416578.2:p.Gly2423HisfsTer8 | |
| ENST00000603639.5:c.7266_7268delinsTC | ENSP00000473894.1:p.Gly2423HisfsTer8 | |
| ENST00000604864.5:c.7266_7268delinsTC | ENSP00000474498.1:p.Gly2423HisfsTer8 | |
| ENST00000618972.4:c.7266_7268delinsTC | ENSP00000484342.1:p.Gly2423HisfsTer8 | |
| NM_001164507.1:c.7266_7268delinsTC | NP_001157979.1:p.Gly2423HisfsTer8 | |
| NM_001164508.1:c.7266_7268delinsTC | NP_001157980.1:p.Gly2423HisfsTer8 | |
| NM_001271208.1:c.7266_7268delinsTC , LRG_202t1:c.7266_7268delinsTC | NP_001258137.1:p.Gly2423HisfsTer8 | |
| NM_004543.4:c.7266_7268delinsTC | NP_004534.2:p.Gly2423HisfsTer8 | |
| XM_005246590.1:c.7266_7268delinsTC | XP_005246647.1:p.Gly2423HisfsTer8 | |
| XM_005246591.1:c.7266_7268delinsTC | XP_005246648.1:p.Gly2423HisfsTer8 | |
| XM_005246592.1:c.7266_7268delinsTC | XP_005246649.1:p.Gly2423HisfsTer8 | |
| XM_005246593.1:c.7266_7268delinsTC | XP_005246650.1:p.Gly2423HisfsTer8 | |
| XM_005246594.1:c.7266_7268delinsTC | XP_005246651.1:p.Gly2423HisfsTer8 | |
| XM_005246595.1:c.7266_7268delinsTC | XP_005246652.1:p.Gly2423HisfsTer8 | |
| XM_005246596.1:c.7266_7268delinsTC | XP_005246653.1:p.Gly2423HisfsTer8 | |
| XM_005246597.1:c.7266_7268delinsTC | XP_005246654.1:p.Gly2423HisfsTer8 | |
| XM_005246598.1:c.7266_7268delinsTC | XP_005246655.1:p.Gly2423HisfsTer8 | |
| XM_005246599.1:c.7266_7268delinsTC | XP_005246656.1:p.Gly2423HisfsTer8 | |
| XM_005246600.1:c.7266_7268delinsTC | XP_005246657.1:p.Gly2423HisfsTer8 | |
| XM_005246601.1:c.7266_7268delinsTC | XP_005246658.1:p.Gly2423HisfsTer8 | |
| XM_005246602.1:c.7266_7268delinsTC | XP_005246659.1:p.Gly2423HisfsTer8 | |
| XM_005246603.1:c.7266_7268delinsTC | XP_005246660.1:p.Gly2423HisfsTer8 | |
| XM_005246604.1:c.7266_7268delinsTC | XP_005246661.1:p.Gly2423HisfsTer8 | |
| XM_005246606.1:c.7266_7268delinsTC | XP_005246663.1:p.Gly2423HisfsTer8 | |
| XM_005246608.1:c.7266_7268delinsTC | XP_005246665.1:p.Gly2423HisfsTer8 | |
| XM_005246610.1:c.7266_7268delinsTC | XP_005246667.1:p.Gly2423HisfsTer8 | |
| XM_005246611.1:c.7266_7268delinsTC | XP_005246668.1:p.Gly2423HisfsTer8 | |
| XM_005246612.1:c.7266_7268delinsTC | XP_005246669.1:p.Gly2423HisfsTer8 | |
| XM_005246613.1:c.7266_7268delinsTC | XP_005246670.1:p.Gly2423HisfsTer8 | |
| XM_005246615.1:c.7266_7268delinsTC | XP_005246672.1:p.Gly2423HisfsTer8 | |
| XM_005246616.1:c.7266_7268delinsTC | XP_005246673.1:p.Gly2423HisfsTer8 | |
| XM_005246617.1:c.7266_7268delinsTC | XP_005246674.1:p.Gly2423HisfsTer8 | |
| XM_006712541.1:c.7266_7268delinsTC | XP_006712604.1:p.Gly2423HisfsTer8 | |
| XM_006712542.1:c.7266_7268delinsTC | XP_006712605.1:p.Gly2423HisfsTer8 | |
| XM_011511224.1:c.7266_7268delinsTC | XP_011509526.1:p.Gly2423HisfsTer8 | |
| XM_011511225.1:c.7266_7268delinsTC | XP_011509527.1:p.Gly2423HisfsTer8 | |
| XM_011511226.1:c.7266_7268delinsTC | XP_011509528.1:p.Gly2423HisfsTer8 | |
| XM_011511227.1:c.6807+4929_6807+4931delinsTC | XP_011509529.1:n.6807+4929_6807+4931delin... | |
| XM_005246590.2:c.7266_7268delinsTC | XP_005246647.1:p.Gly2423HisfsTer8 | |
| XM_005246591.2:c.7266_7268delinsTC | XP_005246648.1:p.Gly2423HisfsTer8 | |
| XM_005246592.2:c.7266_7268delinsTC | XP_005246649.1:p.Gly2423HisfsTer8 | |
| XM_005246593.2:c.7266_7268delinsTC | XP_005246650.1:p.Gly2423HisfsTer8 | |
| XM_005246594.2:c.7266_7268delinsTC | XP_005246651.1:p.Gly2423HisfsTer8 | |
| XM_005246596.2:c.7266_7268delinsTC | XP_005246653.1:p.Gly2423HisfsTer8 | |
| XM_005246597.2:c.7266_7268delinsTC | XP_005246654.1:p.Gly2423HisfsTer8 | |
| XM_005246598.2:c.7266_7268delinsTC | XP_005246655.1:p.Gly2423HisfsTer8 | |
| XM_005246599.2:c.7266_7268delinsTC | XP_005246656.1:p.Gly2423HisfsTer8 | |
| XM_005246601.2:c.7266_7268delinsTC | XP_005246658.1:p.Gly2423HisfsTer8 | |
| XM_005246602.2:c.7266_7268delinsTC | XP_005246659.1:p.Gly2423HisfsTer8 | |
| XM_005246603.2:c.7266_7268delinsTC | XP_005246660.1:p.Gly2423HisfsTer8 | |
| XM_005246604.2:c.7266_7268delinsTC | XP_005246661.1:p.Gly2423HisfsTer8 | |
| XM_005246606.2:c.7266_7268delinsTC | XP_005246663.1:p.Gly2423HisfsTer8 | |
| XM_005246608.2:c.7266_7268delinsTC | XP_005246665.1:p.Gly2423HisfsTer8 | |
| XM_005246610.2:c.7266_7268delinsTC | XP_005246667.1:p.Gly2423HisfsTer8 | |
| XM_005246611.2:c.7266_7268delinsTC | XP_005246668.1:p.Gly2423HisfsTer8 | |
| XM_005246612.2:c.7266_7268delinsTC | XP_005246669.1:p.Gly2423HisfsTer8 | |
| XM_005246613.2:c.7266_7268delinsTC | XP_005246670.1:p.Gly2423HisfsTer8 | |
| XM_005246615.2:c.7266_7268delinsTC | XP_005246672.1:p.Gly2423HisfsTer8 | |
| XM_005246617.2:c.7266_7268delinsTC | XP_005246674.1:p.Gly2423HisfsTer8 | |
| XM_006712541.2:c.7266_7268delinsTC | XP_006712604.1:p.Gly2423HisfsTer8 | |
| XM_006712542.2:c.7266_7268delinsTC | XP_006712605.1:p.Gly2423HisfsTer8 | |
| XM_011511225.2:c.7266_7268delinsTC | XP_011509527.1:p.Gly2423HisfsTer8 | |
| XM_011511226.2:c.7266_7268delinsTC | XP_011509528.1:p.Gly2423HisfsTer8 | |
| XM_011511227.2:c.6807+4929_6807+4931delinsTC | XP_011509529.1:n.6807+4929_6807+4931delin... | |
| XM_017004177.1:c.7266_7268delinsTC | XP_016859666.1:p.Gly2423HisfsTer8 | |
| XM_017004178.1:c.7266_7268delinsTC | XP_016859667.1:p.Gly2423HisfsTer8 | |
| XM_017004179.1:c.7266_7268delinsTC | XP_016859668.1:p.Gly2423HisfsTer8 | |
| XM_017004180.1:c.7266_7268delinsTC | XP_016859669.1:p.Gly2423HisfsTer8 | |
| XM_017004181.1:c.7266_7268delinsTC | XP_016859670.1:p.Gly2423HisfsTer8 | |
| XM_017004182.1:c.7266_7268delinsTC | XP_016859671.1:p.Gly2423HisfsTer8 | |
| XM_017004183.1:c.7266_7268delinsTC | XP_016859672.1:p.Gly2423HisfsTer8 | |
| XM_017004184.1:c.7266_7268delinsTC | XP_016859673.1:p.Gly2423HisfsTer8 | |
| XM_017004185.1:c.7266_7268delinsTC | XP_016859674.1:p.Gly2423HisfsTer8 | |
| NM_001271208.2:c.7266_7268delinsTC | NP_001258137.2:p.Gly2423HisfsTer8 | |
| NM_004543.5:c.7266_7268delinsTC | NP_004534.3:p.Gly2423HisfsTer8 | |
| NM_001164507.2:c.7266_7268delinsTC MANE Plus Clinical | NP_001157979.2:p.Gly2423HisfsTer8 | |
| NM_001164508.2:c.7266_7268delinsTC MANE Select | NP_001157980.2:p.Gly2423HisfsTer8 |