Linked Data
ClinVar Variation Id:
425763
ClinVar RCV Id:
RCV000488692
dbSNP Id:
rs1085307212
MyVariant Identifiers:
chr2:g.203332333_203332334insAA (hg19)
chr2:g.202467610_202467611insAA (hg38)
PubMed:
PMID:26387786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202467610_202467611insAA , CM000664.2:g.202467610_202467611insAA | GRCh38 |
| NC_000002.11:g.203332333_203332334insAA , CM000664.1:g.203332333_203332334insAA | GRCh37 |
| NC_000002.10:g.203040578_203040579insAA | NCBI36 |
| NG_009363.1:g.96284_96285insAA , LRG_712:g.96284_96285insAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.339_340insAA MANE Select | ENSP00000363708.4:p.Arg114AsnfsTer? | |
| ENST00000638587.1:c.270_271insAA | ENSP00000491062.1:p.Arg91AsnfsTer? | |
| ENST00000374574.2:c.339_340insAA | ENSP00000363702.2:p.Arg114AsnfsTer? | |
| ENST00000374580.8:c.339_340insAA | ENSP00000363708.4:p.Arg114AsnfsTer? | |
| ENST00000479069.1:n.246_247insAA | ||
| NM_001204.6:c.339_340insAA , LRG_712t1:c.339_340insAA | NP_001195.2:p.Arg114AsnfsTer? | |
| XM_011511687.1:c.339_340insAA | XP_011509989.1:p.Arg114AsnfsTer? | |
| XM_011511688.1:c.339_340insAA | XP_011509990.1:p.Arg114AsnfsTer? | |
| NM_001204.7:c.339_340insAA MANE Select | NP_001195.2:p.Arg114AsnfsTer? |