Linked Data
dbSNP Id:
rs1700544279
gnomAD v4:
2-237336334-A-G
MyVariant Identifiers:
chr2:g.238244977A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336334A>G , CM000664.2:g.237336334A>G | GRCh38 |
| NC_000002.11:g.238244977A>G , CM000664.1:g.238244977A>G | GRCh37 |
| NC_000002.10:g.237909716A>G | NCBI36 |
| NG_008676.1:g.82874T>C , LRG_473:g.82874T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1411T>C | ||
| ENST00000353578.9:c.8148T>C | ENSP00000315873.4:p.Pro2716= | |
| ENST00000682957.1:c.893T>C | ||
| ENST00000684508.1:n.1033T>C | ||
| ENST00000295550.9:c.8766T>C MANE Select | ENSP00000295550.4:p.Pro2922= | |
| ENST00000295550.8:c.8766T>C | ENSP00000295550.4:p.Pro2922= | |
| ENST00000347401.7:c.6942T>C | ENSP00000315609.4:p.Pro2314= | |
| ENST00000353578.8:c.8148T>C | ENSP00000315873.4:p.Pro2716= | |
| ENST00000409809.5:c.8148T>C | ENSP00000386844.1:p.Pro2716= | |
| ENST00000472056.5:c.6945T>C | ENSP00000418285.1:p.Pro2315= | |
| ENST00000491769.1:n.5208T>C | ||
| NM_004369.3:c.8766T>C , LRG_473t1:c.8766T>C | NP_004360.2:p.Pro2922= | |
| NM_057166.4:c.6945T>C | NP_476507.3:p.Pro2315= | |
| NM_057167.3:c.8148T>C | NP_476508.2:p.Pro2716= | |
| XM_005246065.1:c.8166T>C | XP_005246122.1:p.Pro2722= | |
| XM_005246066.1:c.7545T>C | XP_005246123.1:p.Pro2515= | |
| XM_006712253.1:c.8265T>C | XP_006712316.1:p.Pro2755= | |
| XM_011510574.1:c.8763T>C | XP_011508876.1:p.Pro2921= | |
| XM_011510575.1:c.6360T>C | XP_011508877.1:p.Pro2120= | |
| XM_017003304.1:c.6360T>C | XP_016858793.1:p.Pro2120= | |
| XM_024452684.1:c.7545T>C | XP_024308452.1:p.Pro2515= | |
| NM_004369.4:c.8766T>C MANE Select | NP_004360.2:p.Pro2922= | |
| NM_057166.5:c.6945T>C | NP_476507.3:p.Pro2315= | |
| NM_057167.4:c.8148T>C | NP_476508.2:p.Pro2716= |