Linked Data
ClinVar Variation Id:
2749192
ClinVar RCV Id:
RCV003516881
dbSNP Id:
rs2148166518
MyVariant Identifiers:
chr2:g.29443632C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220766C>G , CM000664.2:g.29220766C>G | GRCh38 |
| NC_000002.11:g.29443632C>G , CM000664.1:g.29443632C>G | GRCh37 |
| NC_000002.10:g.29297136C>G | NCBI36 |
| NG_009445.1:g.705801G>C , LRG_488:g.705801G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3585G>C MANE Select | ENSP00000373700.3:p.Leu1195= | |
| ENST00000431873.6:c.812G>C | ||
| ENST00000638605.1:n.462G>C | ||
| ENST00000642122.1:c.381G>C | ENSP00000493203.1:p.Leu127= | |
| ENST00000389048.7:c.3585G>C | ENSP00000373700.3:p.Leu1195= | |
| ENST00000431873.5:c.465G>C | ENSP00000414027.2:p.Leu155= | |
| ENST00000618119.4:c.2454G>C | ENSP00000482733.1:p.Leu818= | |
| NM_004304.4:c.3585G>C | NP_004295.2:p.Leu1195= | |
| NM_001353765.1:c.381G>C | NP_001340694.1:p.Leu127= | |
| XM_024452778.1:c.738G>C | XP_024308546.1:p.Leu246= | |
| XM_024452779.1:c.381G>C | XP_024308547.1:p.Leu127= | |
| NM_004304.5:c.3585G>C MANE Select | NP_004295.2:p.Leu1195= | |
| NM_001353765.2:c.381G>C | NP_001340694.1:p.Leu127= |