Linked Data
dbSNP Id:
rs1389368023
gnomAD v3:
2-202541992-T-TACA
gnomAD v4:
2-202541992-T-TACA
MyVariant Identifiers:
chr2:g.203406715_203406716insACA (hg19)
chr2:g.202541992_202541993insACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202541992_202541993insACA , CM000664.2:g.202541992_202541993insACA | GRCh38 |
| NC_000002.11:g.203406715_203406716insACA , CM000664.1:g.203406715_203406716insACA | GRCh37 |
| NC_000002.10:g.203114960_203114961insACA | NCBI36 |
| NG_009363.1:g.170666_170667insACA , LRG_712:g.170666_170667insACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1277-319_1277-318insACA MANE Select | ENSP00000363708.4:n.1277-319_1277-318insACA | |
| ENST00000638587.1:c.1208-319_1208-318insACA | ENSP00000491062.1:n.1208-319_1208-318insACA | |
| ENST00000374574.2:c.1277-319_1277-318insACA | ENSP00000363702.2:n.1277-319_1277-318insACA | |
| ENST00000374580.8:c.1277-319_1277-318insACA | ENSP00000363708.4:n.1277-319_1277-318insACA | |
| NM_001204.6:c.1277-319_1277-318insACA , LRG_712t1:c.1277-319_1277-318insACA | NP_001195.2:n.1277-319_1277-318insACA | |
| XM_011511687.1:c.1277-319_1277-318insACA | XP_011509989.1:n.1277-319_1277-318insACA | |
| XM_011511688.1:c.1277-319_1277-318insACA | XP_011509990.1:n.1277-319_1277-318insACA | |
| NM_001204.7:c.1277-319_1277-318insACA MANE Select | NP_001195.2:n.1277-319_1277-318insACA |