Linked Data
ClinVar Variation Id:
2173118
ClinVar RCV Id:
RCV002581751
gnomAD v4:
2-237360157-A-G
MyVariant Identifiers:
chr2:g.238268800A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237360157A>G , CM000664.2:g.237360157A>G | GRCh38 |
| NC_000002.11:g.238268800A>G , CM000664.1:g.238268800A>G | GRCh37 |
| NC_000002.10:g.237933539A>G | NCBI36 |
| NG_008676.1:g.59051T>C , LRG_473:g.59051T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.5595T>C | ENSP00000315873.4:p.Gly1865= | |
| ENST00000295550.9:c.6213T>C MANE Select | ENSP00000295550.4:p.Gly2071= | |
| ENST00000295550.8:c.6213T>C | ENSP00000295550.4:p.Gly2071= | |
| ENST00000347401.7:c.4392T>C | ENSP00000315609.4:p.Gly1464= | |
| ENST00000353578.8:c.5595T>C | ENSP00000315873.4:p.Gly1865= | |
| ENST00000409809.5:c.5595T>C | ENSP00000386844.1:p.Gly1865= | |
| ENST00000472056.5:c.4392T>C | ENSP00000418285.1:p.Gly1464= | |
| NM_004369.3:c.6213T>C , LRG_473t1:c.6213T>C | NP_004360.2:p.Gly2071= | |
| NM_057166.4:c.4392T>C | NP_476507.3:p.Gly1464= | |
| NM_057167.3:c.5595T>C | NP_476508.2:p.Gly1865= | |
| XM_005246065.1:c.5613T>C | XP_005246122.1:p.Gly1871= | |
| XM_005246066.1:c.4992T>C | XP_005246123.1:p.Gly1664= | |
| XM_006712253.1:c.5712T>C | XP_006712316.1:p.Gly1904= | |
| XM_011510574.1:c.6210T>C | XP_011508876.1:p.Gly2070= | |
| XM_011510575.1:c.3807T>C | XP_011508877.1:p.Gly1269= | |
| XM_017003304.1:c.3807T>C | XP_016858793.1:p.Gly1269= | |
| XM_024452684.1:c.4992T>C | XP_024308452.1:p.Gly1664= | |
| NM_004369.4:c.6213T>C MANE Select | NP_004360.2:p.Gly2071= | |
| NM_057166.5:c.4392T>C | NP_476507.3:p.Gly1464= | |
| NM_057167.4:c.5595T>C | NP_476508.2:p.Gly1865= |