Linked Data
ClinVar Variation Id:
2868107
ClinVar RCV Id:
RCV003703151
dbSNP Id:
rs534545752
ExAC:
4:108820789 A / G
gnomAD v2:
4-108820789-A-G
gnomAD v3:
4-107899633-A-G
gnomAD v4:
4-107899633-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107899633A>G , CM000666.2:g.107899633A>G | GRCh38 |
| NC_000004.11:g.108820789A>G , CM000666.1:g.108820789A>G | GRCh37 |
| NC_000004.10:g.109040238A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690982.1:c.514A>G (SGMS2) MANE Select | ENSP00000508566.1:p.Ile172Val | |
| ENST00000359079.8:c.514A>G (SGMS2) | ENSP00000351981.4:p.Ile172Val | |
| ENST00000394684.8:c.514A>G (SGMS2) | ENSP00000378176.4:p.Ile172Val | |
| ENST00000394686.3:c.514A>G (SGMS2) | ENSP00000378178.3:p.Ile172Val | |
| ENST00000503862.5:c.-6A>G (SGMS2) | ENSP00000428176.1:n.-6A>G | |
| NM_001136257.1:c.514A>G (SGMS2) | NP_001129729.1:p.Ile172Val | |
| NM_001136258.1:c.514A>G (SGMS2) | NP_001129730.1:p.Ile172Val | |
| NM_152621.5:c.514A>G (SGMS2) | NP_689834.1:p.Ile172Val | |
| NR_125929.1:n.150-5996T>C (CYP2U1-AS1) | ||
| XM_006714121.1:c.514A>G (SGMS2) | XP_006714184.1:p.Ile172Val | |
| XM_011531698.1:c.514A>G (SGMS2) | XP_011530000.1:p.Ile172Val | |
| XM_011531699.1:c.514A>G (SGMS2) | XP_011530001.1:p.Ile172Val | |
| XM_011531700.1:c.514A>G (SGMS2) | XP_011530002.1:p.Ile172Val | |
| XM_011531701.1:c.514A>G (SGMS2) | XP_011530003.1:p.Ile172Val | |
| XM_011531702.1:c.514A>G (SGMS2) | XP_011530004.1:p.Ile172Val | |
| XM_011531698.2:c.514A>G (SGMS2) | XP_011530000.1:p.Ile172Val | |
| XM_011531699.2:c.514A>G (SGMS2) | XP_011530001.1:p.Ile172Val | |
| XM_011531700.2:c.514A>G (SGMS2) | XP_011530002.1:p.Ile172Val | |
| XM_011531701.2:c.514A>G (SGMS2) | XP_011530003.1:p.Ile172Val | |
| XM_011531702.2:c.514A>G (SGMS2) | XP_011530004.1:p.Ile172Val | |
| XM_017007839.1:c.514A>G (SGMS2) | XP_016863328.1:p.Ile172Val | |
| XM_017007841.1:c.514A>G (SGMS2) | XP_016863330.1:p.Ile172Val | |
| NM_001136257.2:c.514A>G (SGMS2) | NP_001129729.1:p.Ile172Val | |
| NM_001136258.2:c.514A>G (SGMS2) | NP_001129730.1:p.Ile172Val | |
| NM_001375905.1:c.514A>G (SGMS2) MANE Select | NP_001362834.1:p.Ile172Val | |
| NM_001375906.1:c.514A>G (SGMS2) | NP_001362835.1:p.Ile172Val | |
| NM_001375907.1:c.514A>G (SGMS2) | NP_001362836.1:p.Ile172Val | |
| NM_001375908.1:c.514A>G (SGMS2) | NP_001362837.1:p.Ile172Val | |
| NM_001375910.1:c.514A>G (SGMS2) | NP_001362839.1:p.Ile172Val | |
| NM_001375911.1:c.-6A>G (SGMS2) | NP_001362840.1:n.-6A>G | |
| NM_152621.6:c.514A>G (SGMS2) | NP_689834.1:p.Ile172Val |