Linked Data
dbSNP Id:
rs967238035
gnomAD v4:
2-108907736-A-C
MyVariant Identifiers:
chr2:g.108907736A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108907736A>C , CM000664.2:g.108907736A>C | GRCh38 |
| NC_000002.11:g.109524192A>C , CM000664.1:g.109524192A>C | GRCh37 |
| NC_000002.10:g.108890624A>C | NCBI36 |
| NG_008257.1:g.86637T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.963+124T>G (EDAR) MANE Select | ENSP00000258443.2:n.963+124T>G | |
| ENST00000258443.6:c.963+124T>G (EDAR) | ENSP00000258443.2:n.963+124T>G | |
| ENST00000376651.1:c.1059+124T>G (EDAR) | ENSP00000365839.1:n.1059+124T>G | |
| ENST00000409271.5:c.1059+124T>G (EDAR) | ENSP00000386371.1:n.1059+124T>G | |
| NM_022336.3:c.963+124T>G (EDAR) | NP_071731.1:n.963+124T>G | |
| XM_006712204.1:c.1059+124T>G (EDAR) | XP_006712267.1:n.1059+124T>G | |
| XM_011510502.1:c.1110+124T>G (EDAR) | XP_011508804.1:n.1110+124T>G | |
| XM_011510503.1:c.1014+124T>G (EDAR) | XP_011508805.1:n.1014+124T>G | |
| XM_011510504.1:c.390+124T>G (EDAR) | XP_011508806.1:n.390+124T>G | |
| XM_011510502.2:c.1203+124T>G (EDAR) | XP_011508804.2:n.1203+124T>G | |
| XM_011510503.2:c.1107+124T>G (EDAR) | XP_011508805.2:n.1107+124T>G | |
| XM_017004623.2:c.8370+134690A>C (RANBP2) | XP_016860112.1:n.8370+134690A>C | |
| NM_022336.4:c.963+124T>G (EDAR) MANE Select | NP_071731.1:n.963+124T>G |