Linked Data
ClinVar Variation Id:
2704929
ClinVar RCV Id:
RCV003503578
dbSNP Id:
rs1672941877
gnomAD v3:
2-73490002-A-G
gnomAD v4:
2-73490002-A-G
MyVariant Identifiers:
chr2:g.73717129A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490002A>G , CM000664.2:g.73490002A>G | GRCh38 |
| NC_000002.11:g.73717129A>G , CM000664.1:g.73717129A>G | GRCh37 |
| NC_000002.10:g.73570637A>G | NCBI36 |
| NG_011690.1:g.109250A>G , LRG_741:g.109250A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7662A>G | ENSP00000507671.1:p.Ser2554= | |
| ENST00000682801.1:c.7662A>G | ENSP00000507862.1:p.Ser2554= | |
| ENST00000682859.1:c.7662A>G | ENSP00000508222.1:p.Ser2554= | |
| ENST00000683791.1:c.1054A>G | ||
| ENST00000684460.1:c.5114A>G | ||
| ENST00000684548.1:c.7662A>G | ENSP00000507421.1:p.Ser2554= | |
| ENST00000684590.1:c.2109A>G | ENSP00000507376.1:p.Ser703= | |
| ENST00000684656.1:c.5114A>G | ||
| ENST00000613296.6:c.8043A>G MANE Select | ENSP00000482968.1:p.Ser2681= | |
| ENST00000651434.1:c.896-29773A>G | ||
| ENST00000423048.5:c.2874A>G | ENSP00000399833.1:p.Ser958= | |
| ENST00000484298.5:c.7917A>G | ENSP00000478155.1:p.Ser2639= | |
| ENST00000613296.4:c.8043A>G | ENSP00000482968.1:p.Ser2681= | |
| ENST00000614410.4:c.8043A>G | ENSP00000479094.1:p.Ser2681= | |
| ENST00000620466.4:n.1846A>G | ||
| NM_015120.4:c.8046A>G , LRG_741t1:c.8046A>G | NP_055935.4:p.Ser2682= | |
| NM_001378454.1:c.8043A>G MANE Select | NP_001365383.1:p.Ser2681= |