Linked Data
ClinVar Variation Id:
2914379
ClinVar RCV Id:
RCV003609858
dbSNP Id:
rs1674957515
gnomAD v4:
2-73572506-C-G
MyVariant Identifiers:
chr2:g.73799633C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572506C>G , CM000664.2:g.73572506C>G | GRCh38 |
| NC_000002.11:g.73799633C>G , CM000664.1:g.73799633C>G | GRCh37 |
| NC_000002.10:g.73653141C>G | NCBI36 |
| NG_011690.1:g.191754C>G , LRG_741:g.191754C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10248C>G | ENSP00000507671.1:p.Thr3416= | |
| ENST00000682801.1:c.10248C>G | ENSP00000507862.1:p.Thr3416= | |
| ENST00000682859.1:c.10248C>G | ENSP00000508222.1:p.Thr3416= | |
| ENST00000683791.1:c.3334C>G | ||
| ENST00000684460.1:c.7529C>G | ||
| ENST00000684548.1:c.10248C>G | ENSP00000507421.1:p.Thr3416= | |
| ENST00000684590.1:c.4695C>G | ENSP00000507376.1:p.Thr1565= | |
| ENST00000684656.1:c.7574C>G | ||
| ENST00000613296.6:c.10629C>G MANE Select | ENSP00000482968.1:p.Thr3543= | |
| ENST00000651057.1:c.783C>G | ENSP00000498504.1:p.Thr261= | |
| ENST00000651434.1:c.1985C>G | ||
| ENST00000651750.1:c.17C>G | ||
| ENST00000652487.1:c.1726C>G | ||
| ENST00000423048.5:c.4120C>G | ENSP00000399833.1:n.4120C>G | |
| ENST00000484298.5:c.10503C>G | ENSP00000478155.1:p.Thr3501= | |
| ENST00000613296.4:c.10629C>G | ENSP00000482968.1:p.Thr3543= | |
| ENST00000614410.4:c.10629C>G | ENSP00000479094.1:p.Thr3543= | |
| ENST00000620466.4:n.4432C>G | ||
| NM_015120.4:c.10632C>G , LRG_741t1:c.10632C>G | NP_055935.4:p.Thr3544= | |
| NM_001378454.1:c.10629C>G MANE Select | NP_001365383.1:p.Thr3543= |