Linked Data
dbSNP Id:
rs143408801
gnomAD v3:
2-31567456-G-GTGTGTGTGTA
gnomAD v4:
2-31567456-G-GTGTGTGTGTA
MyVariant Identifiers:
chr2:g.31792526_31792527insTGTGTGTGTA (hg19)
chr2:g.31567456_31567457insTGTGTGTGTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31567457_31567458insGTGTGTGTAT , CM000664.2:g.31567457_31567458insGTGTGTGTAT | GRCh38 |
| NC_000002.11:g.31792527_31792528insGTGTGTGTAT , CM000664.1:g.31792527_31792528insGTGTGTGTAT | GRCh37 |
| NC_000002.10:g.31646031_31646032insGTGTGTGTAT | NCBI36 |
| NG_008365.1:g.18515_18516insTACACACACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.281+13163_281+13164insTACACACACA MANE Select | ENSP00000477587.1:n.281+13163_281+13164insTACACACACA | |
| ENST00000622030.1:c.281+13163_281+13164insTACACACACA | ENSP00000477587.1:n.281+13163_281+13164insTACACACACA | |
| NM_000348.3:c.281+13163_281+13164insTACACACACA | NP_000339.2:n.281+13163_281+13164insTACACACACA | |
| XM_011533068.1:c.281+13163_281+13164insTACACACACA | XP_011531370.1:n.281+13163_281+13164insTACACACACA | |
| XM_011533070.1:c.27-33691_27-33690insTACACACACA | XP_011531372.1:n.27-33691_27-33690insTACACACACA | |
| XM_011533071.1:c.27-33691_27-33690insTACACACACA | XP_011531373.1:n.27-33691_27-33690insTACACACACA | |
| XM_011533072.1:c.27-33691_27-33690insTACACACACA | XP_011531374.1:n.27-33691_27-33690insTACACACACA | |
| XM_011533072.2:c.27-33691_27-33690insTACACACACA | XP_011531374.1:n.27-33691_27-33690insTACACACACA | |
| NM_000348.4:c.281+13163_281+13164insTACACACACA MANE Select | NP_000339.2:n.281+13163_281+13164insTACACACACA |