Linked Data
ClinVar Variation Id:
1551301
ClinVar RCV Id:
RCV002196730
dbSNP Id:
rs2104437489
MyVariant Identifiers:
chr2:g.113877680A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113120103A>G , CM000664.2:g.113120103A>G | GRCh38 |
| NC_000002.11:g.113877680A>G , CM000664.1:g.113877680A>G | GRCh37 |
| NC_000002.10:g.113594151A>G | NCBI36 |
| NG_021240.1:g.7211A>G , LRG_188:g.7211A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-235A>G | ENSP00000387210.1:n.-235A>G | |
| ENST00000696881.1:c.-235A>G | ENSP00000512949.1:n.-235A>G | |
| ENST00000259206.9:c.48A>G | ENSP00000259206.5:p.Glu16= | |
| ENST00000354115.6:c.10+2075A>G | ENSP00000329072.3:n.10+2075A>G | |
| ENST00000361779.7:c.-209-1345A>G | ENSP00000354816.3:n.-209-1345A>G | |
| ENST00000409052.5:c.-235A>G | ENSP00000387210.1:n.-235A>G | |
| ENST00000486167.1:n.48+2075A>G | ||
| NM_000577.4:c.10+2075A>G | NP_000568.1:n.10+2075A>G | |
| NM_173841.2:c.48A>G , LRG_188t1:c.48A>G | NP_776213.1:p.Glu16= | |
| NM_173843.2:c.-209-1345A>G | NP_776215.1:n.-209-1345A>G | |
| XM_006712497.2:c.-235A>G | XP_006712560.1:n.-235A>G | |
| XM_011511121.1:c.-235A>G | XP_011509423.1:n.-235A>G | |
| NM_001318914.1:c.-235A>G | NP_001305843.1:n.-235A>G | |
| NM_000577.5:c.10+2075A>G | NP_000568.1:n.10+2075A>G | |
| NM_001318914.2:c.-235A>G | NP_001305843.1:n.-235A>G | |
| NM_173843.3:c.-209-1345A>G | NP_776215.1:n.-209-1345A>G | |
| NM_173841.3:c.48A>G | NP_776213.1:p.Glu16= |