Linked Data
dbSNP Id:
rs746203185
ExAC:
2:203397507 T / TAAA
MyVariant Identifiers:
chr2:g.203397507_203397508insAAA (hg19)
chr2:g.202532784_202532785insAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202532784_202532785insAAA , CM000664.2:g.202532784_202532785insAAA | GRCh38 |
| NC_000002.11:g.203397507_203397508insAAA , CM000664.1:g.203397507_203397508insAAA | GRCh37 |
| NC_000002.10:g.203105752_203105753insAAA | NCBI36 |
| NG_009363.1:g.161458_161459insAAA , LRG_712:g.161458_161459insAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1276+52_1276+53insAAA MANE Select | ENSP00000363708.4:n.1276+52_1276+53insAAA | |
| ENST00000638587.1:c.1207+52_1207+53insAAA | ENSP00000491062.1:n.1207+52_1207+53insAAA | |
| ENST00000374574.2:c.1276+52_1276+53insAAA | ENSP00000363702.2:n.1276+52_1276+53insAAA | |
| ENST00000374580.8:c.1276+52_1276+53insAAA | ENSP00000363708.4:n.1276+52_1276+53insAAA | |
| NM_001204.6:c.1276+52_1276+53insAAA , LRG_712t1:c.1276+52_1276+53insAAA | NP_001195.2:n.1276+52_1276+53insAAA | |
| XM_011511687.1:c.1276+52_1276+53insAAA | XP_011509989.1:n.1276+52_1276+53insAAA | |
| XM_011511688.1:c.1276+52_1276+53insAAA | XP_011509990.1:n.1276+52_1276+53insAAA | |
| NM_001204.7:c.1276+52_1276+53insAAA MANE Select | NP_001195.2:n.1276+52_1276+53insAAA |