Linked Data
ClinVar Variation Id:
205630
dbSNP Id:
rs137975476
ExAC:
17:45012446 C / T
gnomAD v2:
17-45012446-C-T
gnomAD v3:
17-46935080-C-T
gnomAD v4:
17-46935080-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46935080C>T , CM000679.2:g.46935080C>T | GRCh38 |
| NC_000017.10:g.45012446C>T , CM000679.1:g.45012446C>T | GRCh37 |
| NC_000017.9:g.42367445C>T | NCBI36 |
| NG_031806.1:g.16961C>T | |
| NG_031806.2:g.16961C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225567.9:c.388C>T (GOSR2) | ENSP00000225567.4:p.Leu130Phe | |
| ENST00000393456.7:c.282+2881C>T (GOSR2) | ENSP00000377101.3:n.282+2881C>T | |
| ENST00000415811.7:c.385C>T (GOSR2) | ENSP00000394559.3:p.Leu129Phe | |
| ENST00000570879.2:c.499C>T (GOSR2) | ENSP00000458154.2:p.Leu167Phe | |
| ENST00000573224.2:c.388C>T (GOSR2) | ENSP00000461784.2:p.Leu130Phe | |
| ENST00000576910.7:c.382C>T (GOSR2) | ENSP00000461673.2:p.Leu128Phe | |
| ENST00000623037.2:c.388C>T (GOSR2) | ENSP00000492669.1:p.Leu130Phe | |
| ENST00000638189.1:c.388C>T (GOSR2) | ENSP00000491785.1:p.Leu130Phe | |
| ENST00000638216.1:c.334C>T (GOSR2) | ENSP00000491961.1:p.Leu112Phe | |
| ENST00000638219.1:c.388C>T (GOSR2) | ENSP00000491399.1:p.Leu130Phe | |
| ENST00000638374.1:c.31C>T (GOSR2) | ENSP00000492139.1:p.Leu11Phe | |
| ENST00000638468.1:c.230+2881C>T (GOSR2) | ||
| ENST00000638579.1:c.388C>T (GOSR2) | ENSP00000491266.1:p.Leu130Phe | |
| ENST00000638634.1:c.333+2881C>T (GOSR2) | ENSP00000491946.1:n.333+2881C>T | |
| ENST00000638697.1:c.336+2881C>T (GOSR2) | ENSP00000492360.1:n.336+2881C>T | |
| ENST00000638838.1:c.385C>T (GOSR2) | ENSP00000492524.1:p.Leu129Phe | |
| ENST00000638892.1:c.-34+2881C>T (GOSR2) | ENSP00000492607.1:n.-34+2881C>T | |
| ENST00000639031.1:c.31C>T (GOSR2) | ENSP00000491283.1:p.Leu11Phe | |
| ENST00000639066.1:n.369+2881C>T (GOSR2) | ||
| ENST00000639080.1:n.304C>T (GOSR2) | ||
| ENST00000639199.1:c.336+2881C>T (GOSR2) | ENSP00000491396.1:n.336+2881C>T | |
| ENST00000639287.1:c.334C>T (GOSR2) | ENSP00000492278.1:p.Leu112Phe | |
| ENST00000639365.1:c.388C>T (GOSR2) | ENSP00000491253.1:p.Leu130Phe | |
| ENST00000639388.1:c.334C>T (GOSR2) | ENSP00000492544.1:p.Leu112Phe | |
| ENST00000639713.1:c.259C>T (GOSR2) | ENSP00000491100.1:p.Leu87Phe | |
| ENST00000639822.1:n.369+2881C>T | ||
| ENST00000639985.1:c.336+2881C>T (GOSR2) | ENSP00000492396.1:n.336+2881C>T | |
| ENST00000640051.2:c.388C>T (GOSR2) MANE Select | ENSP00000492751.1:p.Leu130Phe | |
| ENST00000640068.1:c.282+2881C>T (GOSR2) | ENSP00000491682.1:n.282+2881C>T | |
| ENST00000640138.1:c.31C>T (GOSR2) | ENSP00000492565.1:p.Leu11Phe | |
| ENST00000640269.1:c.334C>T (GOSR2) | ENSP00000492146.1:p.Leu112Phe | |
| ENST00000640358.1:c.388C>T (GOSR2) | ENSP00000491135.1:p.Leu130Phe | |
| ENST00000640443.1:c.334C>T (GOSR2) | ENSP00000492548.1:p.Leu112Phe | |
| ENST00000640495.1:c.31C>T (GOSR2) | ENSP00000491859.1:p.Leu11Phe | |
| ENST00000640608.1:c.336+2881C>T (GOSR2) | ENSP00000491979.1:n.336+2881C>T | |
| ENST00000640621.1:c.388C>T (GOSR2) | ENSP00000492830.1:p.Leu130Phe | |
| ENST00000640711.1:c.144-3519C>T (GOSR2) | ENSP00000491361.1:n.144-3519C>T | |
| ENST00000640723.1:c.327C>T (GOSR2) | ||
| ENST00000640792.1:c.388C>T (GOSR2) | ENSP00000492736.1:p.Leu130Phe | |
| ENST00000640806.1:c.397C>T (GOSR2) | ENSP00000491432.1:p.Leu133Phe | |
| ENST00000640871.1:c.70C>T (GOSR2) | ENSP00000492275.1:p.Leu24Phe | |
| ENST00000225567.8:c.388C>T (GOSR2) | ENSP00000225567.4:p.Leu130Phe | |
| ENST00000393456.6:c.388C>T (GOSR2) | ENSP00000377101.2:p.Leu130Phe | |
| ENST00000415811.6:c.388C>T (GOSR2) | ENSP00000394559.2:p.Leu130Phe | |
| ENST00000570879.1:c.381C>T (GOSR2) | ||
| ENST00000571841.1:c.388C>T | ENSP00000461460.1:p.Leu130Phe | |
| ENST00000572403.5:c.282+2881C>T (GOSR2) | ENSP00000460760.1:n.282+2881C>T | |
| ENST00000576910.6:c.336+2881C>T (GOSR2) | ENSP00000461673.1:n.336+2881C>T | |
| NM_001012511.1:c.388C>T (GOSR2) | NP_001012529.1:p.Leu130Phe | |
| NM_004287.3:c.388C>T (GOSR2) | NP_004278.2:p.Leu130Phe | |
| NM_054022.2:c.388C>T (GOSR2) | NP_473363.1:p.Leu130Phe | |
| XM_005257843.2:c.388C>T (GOSR2) | XP_005257900.1:p.Leu130Phe | |
| XM_005257844.2:c.336+2881C>T (GOSR2) | XP_005257901.1:n.336+2881C>T | |
| XM_005257845.2:c.282+2881C>T (GOSR2) | XP_005257902.1:n.282+2881C>T | |
| XM_006722190.2:c.388C>T (GOSR2) | XP_006722253.1:p.Leu130Phe | |
| XM_011525497.1:c.388C>T (GOSR2) | XP_011523799.1:p.Leu130Phe | |
| XM_011525498.1:c.334C>T (GOSR2) | XP_011523800.1:p.Leu112Phe | |
| XM_011525499.1:c.336+2881C>T (GOSR2) | XP_011523801.1:n.336+2881C>T | |
| XM_011525500.1:c.388C>T (GOSR2) | XP_011523802.1:p.Leu130Phe | |
| XM_011525501.1:c.388C>T (GOSR2) | XP_011523803.1:p.Leu130Phe | |
| XM_011525502.1:c.388C>T (GOSR2) | XP_011523804.1:p.Leu130Phe | |
| XM_011525503.1:c.336+2881C>T (GOSR2) | XP_011523805.1:n.336+2881C>T | |
| XR_934613.1:n.467C>T (GOSR2) | ||
| XR_934614.1:n.467C>T (GOSR2) | ||
| XR_934615.1:n.467C>T (GOSR2) | ||
| XR_934616.1:n.467C>T (GOSR2) | ||
| XR_934617.1:n.467C>T (GOSR2) | ||
| XR_934618.1:n.467C>T (GOSR2) | ||
| XR_934619.1:n.467C>T (GOSR2) | ||
| XR_934620.1:n.467C>T (GOSR2) | ||
| XR_934621.1:n.769+2881C>T (GOSR2) | ||
| NM_001012511.2:c.388C>T (GOSR2) | NP_001012529.1:p.Leu130Phe | |
| NM_001321133.1:c.388C>T (GOSR2) | NP_001308062.1:p.Leu130Phe | |
| NM_001321134.1:c.282+2881C>T (GOSR2) | NP_001308063.1:n.282+2881C>T | |
| NM_001330252.1:c.336+2881C>T (GOSR2) | NP_001317181.1:n.336+2881C>T | |
| NM_001353114.1:c.385C>T (GOSR2) | NP_001340043.1:p.Leu129Phe | |
| NM_001353115.1:c.333+2881C>T (GOSR2) | NP_001340044.1:n.333+2881C>T | |
| NM_001353116.1:c.333+2881C>T (GOSR2) | NP_001340045.1:n.333+2881C>T | |
| NM_001363851.1:c.334C>T (GOSR2) | NP_001350780.1:p.Leu112Phe | |
| NM_004287.4:c.388C>T (GOSR2) | NP_004278.2:p.Leu130Phe | |
| NM_054022.3:c.388C>T (GOSR2) | NP_473363.1:p.Leu130Phe | |
| NR_148349.1:n.464C>T (GOSR2) | ||
| NR_148350.1:n.412+2881C>T (GOSR2) | ||
| NR_148351.1:n.412+2881C>T (GOSR2) | ||
| XM_006722190.4:c.388C>T (GOSR2) | XP_006722253.1:p.Leu130Phe | |
| XM_011525501.3:c.388C>T (GOSR2) | XP_011523803.1:p.Leu130Phe | |
| XM_011525502.3:c.388C>T (GOSR2) | XP_011523804.1:p.Leu130Phe | |
| XM_017025378.1:c.385C>T (GOSR2) | XP_016880867.1:p.Leu129Phe | |
| XM_017025379.1:c.334C>T (GOSR2) | XP_016880868.1:p.Leu112Phe | |
| XM_017025380.1:c.334C>T (GOSR2) | XP_016880869.1:p.Leu112Phe | |
| XM_017025381.1:c.331C>T (GOSR2) | XP_016880870.1:p.Leu111Phe | |
| XM_017025382.1:c.331C>T (GOSR2) | XP_016880871.1:p.Leu111Phe | |
| XM_017025383.2:c.388C>T (GOSR2) | XP_016880872.1:p.Leu130Phe | |
| XM_017025386.1:c.336+2881C>T (GOSR2) | XP_016880875.1:n.336+2881C>T | |
| XM_017025387.1:c.333+2881C>T (GOSR2) | XP_016880876.1:n.333+2881C>T | |
| XM_017025389.1:c.334C>T (GOSR2) | XP_016880878.1:p.Leu112Phe | |
| XM_017025392.1:c.336+2881C>T (GOSR2) | XP_016880881.1:n.336+2881C>T | |
| XM_017025394.1:c.282+2881C>T (GOSR2) | XP_016880883.1:n.282+2881C>T | |
| XM_017025395.1:c.282+2881C>T (GOSR2) | XP_016880884.1:n.282+2881C>T | |
| XM_024450773.1:c.4810-113976C>T (LRRC37A2) | XP_024306541.1:n.4810-113976C>T | |
| XR_001752696.2:n.448C>T (GOSR2) | ||
| XR_002958091.1:n.448C>T (GOSR2) | ||
| XR_002958092.1:n.448C>T (GOSR2) | ||
| XR_002958093.1:n.823C>T (GOSR2) | ||
| XR_934616.3:n.448C>T (GOSR2) | ||
| XR_934619.3:n.448C>T (GOSR2) | ||
| NM_001321133.2:c.388C>T (GOSR2) | NP_001308062.1:p.Leu130Phe | |
| NM_001353116.2:c.333+2881C>T (GOSR2) | NP_001340045.1:n.333+2881C>T | |
| NM_004287.5:c.388C>T (GOSR2) MANE Select | NP_004278.2:p.Leu130Phe | |
| NM_054022.4:c.388C>T (GOSR2) | NP_473363.1:p.Leu130Phe | |
| NR_148349.2:n.421C>T (GOSR2) | ||
| NR_148350.2:n.369+2881C>T (GOSR2) | ||
| NR_148351.2:n.369+2881C>T (GOSR2) | ||
| NM_001012511.3:c.388C>T (GOSR2) | NP_001012529.1:p.Leu130Phe | |
| NM_001321134.2:c.282+2881C>T (GOSR2) | NP_001308063.1:n.282+2881C>T | |
| NM_001330252.2:c.336+2881C>T (GOSR2) | NP_001317181.1:n.336+2881C>T | |
| NM_001353114.2:c.385C>T (GOSR2) | NP_001340043.1:p.Leu129Phe | |
| NM_001353115.2:c.333+2881C>T (GOSR2) | NP_001340044.1:n.333+2881C>T | |
| NM_001363851.2:c.334C>T (GOSR2) | NP_001350780.1:p.Leu112Phe |