Linked Data
ClinVar Variation Id:
1797917
ClinVar RCV Id:
RCV002440167
MyVariant Identifiers:
chr2:g.29449915A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227049A>G , CM000664.2:g.29227049A>G | GRCh38 |
| NC_000002.11:g.29449915A>G , CM000664.1:g.29449915A>G | GRCh37 |
| NC_000002.10:g.29303419A>G | NCBI36 |
| NG_009445.1:g.699518T>C , LRG_488:g.699518T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2940T>C MANE Select | ENSP00000373700.3:p.Asn980= | |
| ENST00000431873.6:c.106T>C | ||
| ENST00000389048.7:c.2940T>C | ENSP00000373700.3:p.Asn980= | |
| ENST00000618119.4:c.1809T>C | ENSP00000482733.1:p.Asn603= | |
| NM_004304.4:c.2940T>C | NP_004295.2:p.Asn980= | |
| XM_024452778.1:c.93T>C | XP_024308546.1:p.Asn31= | |
| XR_001738688.2:n.3796T>C | ||
| NM_004304.5:c.2940T>C MANE Select | NP_004295.2:p.Asn980= |