Linked Data
dbSNP Id:
rs1559066523
gnomAD v2:
2-203395662-T-TGCA
gnomAD v4:
2-202530939-T-TGCA
MyVariant Identifiers:
chr2:g.203395662_203395663insGCA (hg19)
chr2:g.202530939_202530940insGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202530942_202530944dup , CM000664.2:g.202530942_202530944dup | GRCh38 |
| NC_000002.11:g.203395665_203395667dup , CM000664.1:g.203395665_203395667dup | GRCh37 |
| NC_000002.10:g.203103910_203103912dup | NCBI36 |
| NG_009363.1:g.159616_159618dup , LRG_712:g.159616_159618dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1116_1118dup MANE Select | ENSP00000363708.4:p.Ala373_Ile374insAla | |
| ENST00000638587.1:c.1047_1049dup | ENSP00000491062.1:p.Ala350_Ile351insAla | |
| ENST00000374574.2:c.1116_1118dup | ENSP00000363702.2:p.Ala373_Ile374insAla | |
| ENST00000374580.8:c.1116_1118dup | ENSP00000363708.4:p.Ala373_Ile374insAla | |
| NM_001204.6:c.1116_1118dup , LRG_712t1:c.1116_1118dup | NP_001195.2:p.Ala373_Ile374insAla | |
| XM_011511687.1:c.1116_1118dup | XP_011509989.1:p.Ala373_Ile374insAla | |
| XM_011511688.1:c.1116_1118dup | XP_011509990.1:p.Ala373_Ile374insAla | |
| NM_001204.7:c.1116_1118dup MANE Select | NP_001195.2:p.Ala373_Ile374insAla |