Linked Data
dbSNP Id:
rs2148166731
COSMIC:
COSM291452
MyVariant Identifiers:
chr2:g.29443698T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220832T>C , CM000664.2:g.29220832T>C | GRCh38 |
| NC_000002.11:g.29443698T>C , CM000664.1:g.29443698T>C | GRCh37 |
| NC_000002.10:g.29297202T>C | NCBI36 |
| NG_009445.1:g.705735A>G , LRG_488:g.705735A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3519A>G MANE Select | ENSP00000373700.3:p.Lys1173= | |
| ENST00000431873.6:c.746A>G | ||
| ENST00000638605.1:n.396A>G | ||
| ENST00000642122.1:c.315A>G | ENSP00000493203.1:p.Lys105= | |
| ENST00000389048.7:c.3519A>G | ENSP00000373700.3:p.Lys1173= | |
| ENST00000431873.5:c.399A>G | ENSP00000414027.2:p.Lys133= | |
| ENST00000618119.4:c.2388A>G | ENSP00000482733.1:p.Lys796= | |
| NM_004304.4:c.3519A>G | NP_004295.2:p.Lys1173= | |
| NM_001353765.1:c.315A>G | NP_001340694.1:p.Lys105= | |
| XM_024452778.1:c.672A>G | XP_024308546.1:p.Lys224= | |
| XM_024452779.1:c.315A>G | XP_024308547.1:p.Lys105= | |
| NM_004304.5:c.3519A>G MANE Select | NP_004295.2:p.Lys1173= | |
| NM_001353765.2:c.315A>G | NP_001340694.1:p.Lys105= |