Linked Data
dbSNP Id:
rs2105371602
gnomAD v4:
2-108897084-G-T
MyVariant Identifiers:
chr2:g.109513540G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108897084G>T , CM000664.2:g.108897084G>T | GRCh38 |
| NC_000002.11:g.109513540G>T , CM000664.1:g.109513540G>T | GRCh37 |
| NC_000002.10:g.108879972G>T | NCBI36 |
| NG_008257.1:g.97289C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.1170C>A (EDAR) MANE Select | ENSP00000258443.2:p.Gly390= | |
| ENST00000258443.6:c.1170C>A (EDAR) | ENSP00000258443.2:p.Gly390= | |
| ENST00000376651.1:c.1266C>A (EDAR) | ENSP00000365839.1:p.Gly422= | |
| ENST00000409271.5:c.1266C>A (EDAR) | ENSP00000386371.1:p.Gly422= | |
| NM_022336.3:c.1170C>A (EDAR) | NP_071731.1:p.Gly390= | |
| XM_006712204.1:c.1266C>A (EDAR) | XP_006712267.1:p.Gly422= | |
| XM_011510502.1:c.1317C>A (EDAR) | XP_011508804.1:p.Gly439= | |
| XM_011510503.1:c.1221C>A (EDAR) | XP_011508805.1:p.Gly407= | |
| XM_011510504.1:c.597C>A (EDAR) | XP_011508806.1:p.Gly199= | |
| XM_011510502.2:c.1410C>A (EDAR) | XP_011508804.2:p.Gly470= | |
| XM_011510503.2:c.1314C>A (EDAR) | XP_011508805.2:p.Gly438= | |
| XM_017004623.2:c.8370+124038G>T (RANBP2) | XP_016860112.1:n.8370+124038G>T | |
| NM_022336.4:c.1170C>A (EDAR) MANE Select | NP_071731.1:p.Gly390= |