Linked Data
dbSNP Id:
rs1197165593
gnomAD v2:
2-47639744-A-ACACTT
MyVariant Identifiers:
chr2:g.47639744_47639745insCACTT (hg19)
chr2:g.47412605_47412606insCACTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47412605_47412606insCACTT , CM000664.2:g.47412605_47412606insCACTT | GRCh38 |
| NC_000002.11:g.47639744_47639745insCACTT , CM000664.1:g.47639744_47639745insCACTT | GRCh37 |
| NC_000002.10:g.47493248_47493249insCACTT | NCBI36 |
| NG_007110.2:g.14482_14483insCACTT , LRG_218:g.14482_14483insCACTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.792+45_792+46insCACTT | ENSP00000495641.2:n.792+45_792+46insCACTT | |
| ENST00000233146.7:c.792+45_792+46insCACTT MANE Select | ENSP00000233146.2:n.792+45_792+46insCACTT | |
| ENST00000543555.6:c.594+45_594+46insCACTT | ENSP00000442697.1:n.594+45_594+46insCACTT | |
| ENST00000644092.1:c.792+45_792+46insCACTT | ENSP00000496351.1:n.792+45_792+46insCACTT | |
| ENST00000645339.1:c.792+45_792+46insCACTT | ENSP00000496441.1:n.792+45_792+46insCACTT | |
| ENST00000645506.1:c.792+45_792+46insCACTT | ENSP00000495455.1:n.792+45_792+46insCACTT | |
| ENST00000646415.1:c.792+45_792+46insCACTT | ENSP00000495543.1:n.792+45_792+46insCACTT | |
| ENST00000233146.6:c.792+45_792+46insCACTT | ENSP00000233146.2:n.792+45_792+46insCACTT | |
| ENST00000406134.5:c.792+45_792+46insCACTT | ENSP00000384199.1:n.792+45_792+46insCACTT | |
| ENST00000543555.5:c.594+45_594+46insCACTT | ENSP00000442697.1:n.594+45_594+46insCACTT | |
| ENST00000610696.4:c.792+45_792+46insCACTT | ENSP00000483159.1:n.792+45_792+46insCACTT | |
| ENST00000613514.4:c.792+45_792+46insCACTT | ENSP00000484137.1:n.792+45_792+46insCACTT | |
| ENST00000617333.3:c.792+45_792+46insCACTT | ENSP00000482468.1:n.792+45_792+46insCACTT | |
| ENST00000617938.4:c.792+45_792+46insCACTT | ENSP00000481158.1:n.792+45_792+46insCACTT | |
| ENST00000621359.2:c.792+45_792+46insCACTT | ENSP00000481416.1:n.792+45_792+46insCACTT | |
| NM_000251.2:c.792+45_792+46insCACTT , LRG_218t1:c.792+45_792+46insCACTT | NP_000242.1:n.792+45_792+46insCACTT | |
| NM_001258281.1:c.594+45_594+46insCACTT | NP_001245210.1:n.594+45_594+46insCACTT | |
| XM_005264332.2:c.792+45_792+46insCACTT | XP_005264389.2:n.792+45_792+46insCACTT | |
| XM_011532867.1:c.792+45_792+46insCACTT | XP_011531169.1:n.792+45_792+46insCACTT | |
| XR_939685.1:n.864+45_864+46insCACTT | ||
| XM_005264332.4:c.792+45_792+46insCACTT | XP_005264389.2:n.792+45_792+46insCACTT | |
| XM_011532867.2:c.792+45_792+46insCACTT | XP_011531169.1:n.792+45_792+46insCACTT | |
| XR_001738747.2:n.854+45_854+46insCACTT | ||
| XR_939685.2:n.854+45_854+46insCACTT | ||
| NM_000251.3:c.792+45_792+46insCACTT MANE Select | NP_000242.1:n.792+45_792+46insCACTT |