Linked Data
ClinVar Variation Id:
2794295
ClinVar RCV Id:
RCV003672750
dbSNP Id:
rs746307732
ExAC:
4:108824497 G / A
gnomAD v2:
4-108824497-G-A
gnomAD v3:
4-107903341-G-A
gnomAD v4:
4-107903341-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107903341G>A , CM000666.2:g.107903341G>A | GRCh38 |
| NC_000004.11:g.108824497G>A , CM000666.1:g.108824497G>A | GRCh37 |
| NC_000004.10:g.109043946G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690982.1:c.682G>A (SGMS2) MANE Select | ENSP00000508566.1:p.Gly228Ser | |
| ENST00000359079.8:c.682G>A (SGMS2) | ENSP00000351981.4:p.Gly228Ser | |
| ENST00000394684.8:c.682G>A (SGMS2) | ENSP00000378176.4:p.Gly228Ser | |
| ENST00000394686.3:c.682G>A (SGMS2) | ENSP00000378178.3:p.Gly228Ser | |
| ENST00000503862.5:c.163G>A (SGMS2) | ENSP00000428176.1:p.Gly55Ser | |
| NM_001136257.1:c.682G>A (SGMS2) | NP_001129729.1:p.Gly228Ser | |
| NM_001136258.1:c.682G>A (SGMS2) | NP_001129730.1:p.Gly228Ser | |
| NM_152621.5:c.682G>A (SGMS2) | NP_689834.1:p.Gly228Ser | |
| NR_125929.1:n.150-9704C>T (CYP2U1-AS1) | ||
| XM_006714121.1:c.682G>A (SGMS2) | XP_006714184.1:p.Gly228Ser | |
| XM_011531698.1:c.682G>A (SGMS2) | XP_011530000.1:p.Gly228Ser | |
| XM_011531699.1:c.682G>A (SGMS2) | XP_011530001.1:p.Gly228Ser | |
| XM_011531700.1:c.682G>A (SGMS2) | XP_011530002.1:p.Gly228Ser | |
| XM_011531701.1:c.682G>A (SGMS2) | XP_011530003.1:p.Gly228Ser | |
| XM_011531702.1:c.682G>A (SGMS2) | XP_011530004.1:p.Gly228Ser | |
| XM_011531698.2:c.682G>A (SGMS2) | XP_011530000.1:p.Gly228Ser | |
| XM_011531699.2:c.682G>A (SGMS2) | XP_011530001.1:p.Gly228Ser | |
| XM_011531700.2:c.682G>A (SGMS2) | XP_011530002.1:p.Gly228Ser | |
| XM_011531701.2:c.682G>A (SGMS2) | XP_011530003.1:p.Gly228Ser | |
| XM_011531702.2:c.682G>A (SGMS2) | XP_011530004.1:p.Gly228Ser | |
| XM_017007839.1:c.682G>A (SGMS2) | XP_016863328.1:p.Gly228Ser | |
| XM_017007841.1:c.682G>A (SGMS2) | XP_016863330.1:p.Gly228Ser | |
| NM_001136257.2:c.682G>A (SGMS2) | NP_001129729.1:p.Gly228Ser | |
| NM_001136258.2:c.682G>A (SGMS2) | NP_001129730.1:p.Gly228Ser | |
| NM_001375905.1:c.682G>A (SGMS2) MANE Select | NP_001362834.1:p.Gly228Ser | |
| NM_001375906.1:c.682G>A (SGMS2) | NP_001362835.1:p.Gly228Ser | |
| NM_001375907.1:c.682G>A (SGMS2) | NP_001362836.1:p.Gly228Ser | |
| NM_001375908.1:c.682G>A (SGMS2) | NP_001362837.1:p.Gly228Ser | |
| NM_001375910.1:c.682G>A (SGMS2) | NP_001362839.1:p.Gly228Ser | |
| NM_001375911.1:c.163G>A (SGMS2) | NP_001362840.1:p.Gly55Ser | |
| NM_152621.6:c.682G>A (SGMS2) | NP_689834.1:p.Gly228Ser |