Linked Data
dbSNP Id:
rs1696610703
gnomAD v4:
2-108897042-T-C
MyVariant Identifiers:
chr2:g.109513498T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108897042T>C , CM000664.2:g.108897042T>C | GRCh38 |
| NC_000002.11:g.109513498T>C , CM000664.1:g.109513498T>C | GRCh37 |
| NC_000002.10:g.108879930T>C | NCBI36 |
| NG_008257.1:g.97331A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.1212A>G (EDAR) MANE Select | ENSP00000258443.2:p.Ala404= | |
| ENST00000258443.6:c.1212A>G (EDAR) | ENSP00000258443.2:p.Ala404= | |
| ENST00000376651.1:c.1308A>G (EDAR) | ENSP00000365839.1:p.Ala436= | |
| ENST00000409271.5:c.1308A>G (EDAR) | ENSP00000386371.1:p.Ala436= | |
| NM_022336.3:c.1212A>G (EDAR) | NP_071731.1:p.Ala404= | |
| XM_006712204.1:c.1308A>G (EDAR) | XP_006712267.1:p.Ala436= | |
| XM_011510502.1:c.1359A>G (EDAR) | XP_011508804.1:p.Ala453= | |
| XM_011510503.1:c.1263A>G (EDAR) | XP_011508805.1:p.Ala421= | |
| XM_011510504.1:c.639A>G (EDAR) | XP_011508806.1:p.Ala213= | |
| XM_011510502.2:c.1452A>G (EDAR) | XP_011508804.2:p.Ala484= | |
| XM_011510503.2:c.1356A>G (EDAR) | XP_011508805.2:p.Ala452= | |
| XM_017004623.2:c.8370+123996T>C (RANBP2) | XP_016860112.1:n.8370+123996T>C | |
| NM_022336.4:c.1212A>G (EDAR) MANE Select | NP_071731.1:p.Ala404= |