Linked Data
ClinVar Variation Id:
14664
ClinVar RCV Id:
RCV000015774
dbSNP Id:
rs121912473
COSMIC:
COSM24439
PubMed:
PMID:17267906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5070026_5070027delinsTT , CM000671.2:g.5070026_5070027delinsTT | GRCh38 |
| NC_000009.11:g.5070026_5070027delinsTT , CM000671.1:g.5070026_5070027delinsTT | GRCh37 |
| NC_000009.10:g.5060026_5060027delinsTT | NCBI36 |
| NG_009904.1:g.89782_89783delinsTT , LRG_612:g.89782_89783delinsTT | |
| NG_046969.1:g.120684_120685delinsAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381652.4:c.1615_1616delinsTT (JAK2) MANE Select | ENSP00000371067.4:p.Lys539Leu | |
| ENST00000636127.1:c.1615_1616delinsTT (JAK2) | ENSP00000489812.1:p.Lys539Leu | |
| ENST00000381652.3:c.1615_1616delinsTT (JAK2) | ENSP00000371067.3:p.Lys539Leu | |
| NM_004972.3:c.1615_1616delinsTT , LRG_612t1:c.1615_1616delinsTT (JAK2) | NP_004963.1:p.Lys539Leu | |
| XM_011517701.1:c.377-54683_377-54682delinsAA (INSL6) | XP_011516003.1:n.377-54683_377-54682delin... | |
| XM_011517702.1:c.377-77594_377-77593delinsAA (INSL6) | XP_011516004.1:n.377-77594_377-77593delin... | |
| XR_929169.1:n.485-54683_485-54682delinsAA (INSL6) | ||
| NM_001322194.1:c.1615_1616delinsTT (JAK2) | NP_001309123.1:p.Lys539Leu | |
| NM_001322195.1:c.1615_1616delinsTT (JAK2) | NP_001309124.1:p.Lys539Leu | |
| NM_001322196.1:c.1615_1616delinsTT (JAK2) | NP_001309125.1:p.Lys539Leu | |
| NM_001322198.1:c.400_401delinsTT (JAK2) | NP_001309127.1:p.Lys134Leu | |
| NM_001322199.1:c.400_401delinsTT (JAK2) | NP_001309128.1:p.Lys134Leu | |
| NM_001322204.1:c.1168_1169delinsTT (JAK2) | NP_001309133.1:p.Lys390Leu | |
| XM_011517702.3:c.377-77594_377-77593delinsAA (INSL6) | XP_011516004.1:n.377-77594_377-77593delin... | |
| NM_004972.4:c.1615_1616delinsTT (JAK2) MANE Select | NP_004963.1:p.Lys539Leu | |
| NM_001322194.2:c.1615_1616delinsTT (JAK2) | NP_001309123.1:p.Lys539Leu | |
| NM_001322195.2:c.1615_1616delinsTT (JAK2) | NP_001309124.1:p.Lys539Leu | |
| NM_001322196.2:c.1615_1616delinsTT (JAK2) | NP_001309125.1:p.Lys539Leu | |
| NM_001322198.2:c.400_401delinsTT (JAK2) | NP_001309127.1:p.Lys134Leu | |
| NM_001322199.2:c.400_401delinsTT (JAK2) | NP_001309128.1:p.Lys134Leu | |
| NM_001322204.2:c.1168_1169delinsTT (JAK2) | NP_001309133.1:p.Lys390Leu | |
| NR_169763.1:n.2099_2100delinsTT (JAK2) | ||
| NR_169764.1:n.2016_2017delinsTT (JAK2) |