Linked Data
ClinVar Variation Id:
1245588
ClinVar RCV Id:
RCV001651577
dbSNP Id:
rs1785467
gnomAD v2:
21-45838632-C-T
gnomAD v3:
21-44418749-C-T
gnomAD v4:
21-44418749-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44418749C>T , CM000683.2:g.44418749C>T | GRCh38 |
| NC_000021.8:g.45838632C>T , CM000683.1:g.45838632C>T | GRCh37 |
| NC_000021.7:g.44663060C>T | NCBI36 |
| NG_022913.1:g.70149C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397928.6:c.3461+194C>T (TRPM2) MANE Select | ENSP00000381023.1:n.3461+194C>T | |
| ENST00000300481.13:c.3401+194C>T (TRPM2) | ENSP00000300481.9:n.3401+194C>T | |
| ENST00000300482.9:c.3461+194C>T (TRPM2) | ENSP00000300482.5:n.3461+194C>T | |
| ENST00000397928.5:c.3461+194C>T (TRPM2) | ENSP00000381023.1:n.3461+194C>T | |
| ENST00000397932.6:c.3461+194C>T (TRPM2) | ENSP00000381026.2:n.3461+194C>T | |
| ENST00000498430.5:n.2913+194C>T (TRPM2) | ||
| NM_003307.3:c.3461+194C>T (TRPM2) | NP_003298.1:n.3461+194C>T | |
| NR_038257.1:n.3564+194C>T (TRPM2) | ||
| NR_109964.1:n.521-3805G>A (TRPM2-AS) | ||
| XM_005261171.2:c.3461+194C>T (TRPM2) | XP_005261228.1:n.3461+194C>T | |
| XM_006724049.2:c.3461+194C>T (TRPM2) | XP_006724112.1:n.3461+194C>T | |
| XM_011529734.1:c.3461+194C>T (TRPM2) | XP_011528036.1:n.3461+194C>T | |
| XM_011529735.1:c.3461+194C>T (TRPM2) | XP_011528037.1:n.3461+194C>T | |
| XM_011529736.1:c.3461+194C>T (TRPM2) | XP_011528038.1:n.3461+194C>T | |
| XM_011529737.1:c.3461+194C>T (TRPM2) | XP_011528039.1:n.3461+194C>T | |
| XR_937565.1:n.3956+194C>T (TRPM2) | ||
| XR_937566.1:n.3939+194C>T (TRPM2) | ||
| NM_001320350.1:c.3461+194C>T (TRPM2) | NP_001307279.1:n.3461+194C>T | |
| NM_001320351.1:c.3461+194C>T (TRPM2) | NP_001307280.1:n.3461+194C>T | |
| XM_005261171.3:c.3461+194C>T (TRPM2) | XP_005261228.1:n.3461+194C>T | |
| XM_011529736.2:c.3461+194C>T (TRPM2) | XP_011528038.1:n.3461+194C>T | |
| XM_017028456.1:c.3461+194C>T (TRPM2) | XP_016883945.1:n.3461+194C>T | |
| XM_017028457.2:c.3461+194C>T (TRPM2) | XP_016883946.1:n.3461+194C>T | |
| XR_001754900.2:n.3968+194C>T (TRPM2) | ||
| XR_001754901.2:n.3968+194C>T (TRPM2) | ||
| XR_001754902.2:n.3966+194C>T (TRPM2) | ||
| XR_002958631.1:n.3969+194C>T (TRPM2) | ||
| NM_001320350.2:c.3461+194C>T (TRPM2) | NP_001307279.2:n.3461+194C>T | |
| NM_001320351.2:c.3461+194C>T (TRPM2) | NP_001307280.2:n.3461+194C>T | |
| NM_003307.4:c.3461+194C>T (TRPM2) MANE Select | NP_003298.2:n.3461+194C>T | |
| NR_038257.2:n.3544+194C>T (TRPM2) |