Linked Data
ClinVar Variation Id:
2937812
ClinVar RCV Id:
RCV003794442
MyVariant Identifiers:
chr2:g.109524357G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108907901G>A , CM000664.2:g.108907901G>A | GRCh38 |
| NC_000002.11:g.109524357G>A , CM000664.1:g.109524357G>A | GRCh37 |
| NC_000002.10:g.108890789G>A | NCBI36 |
| NG_008257.1:g.86472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258443.7:c.922C>T (EDAR) MANE Select | ENSP00000258443.2:p.Leu308= | |
| ENST00000258443.6:c.922C>T (EDAR) | ENSP00000258443.2:p.Leu308= | |
| ENST00000376651.1:c.1018C>T (EDAR) | ENSP00000365839.1:p.Leu340= | |
| ENST00000409271.5:c.1018C>T (EDAR) | ENSP00000386371.1:p.Leu340= | |
| NM_022336.3:c.922C>T (EDAR) | NP_071731.1:p.Leu308= | |
| XM_006712204.1:c.1018C>T (EDAR) | XP_006712267.1:p.Leu340= | |
| XM_011510502.1:c.1069C>T (EDAR) | XP_011508804.1:p.Leu357= | |
| XM_011510503.1:c.973C>T (EDAR) | XP_011508805.1:p.Leu325= | |
| XM_011510504.1:c.349C>T (EDAR) | XP_011508806.1:p.Leu117= | |
| XM_011510502.2:c.1162C>T (EDAR) | XP_011508804.2:p.Leu388= | |
| XM_011510503.2:c.1066C>T (EDAR) | XP_011508805.2:p.Leu356= | |
| XM_017004623.2:c.8370+134855G>A (RANBP2) | XP_016860112.1:n.8370+134855G>A | |
| NM_022336.4:c.922C>T (EDAR) MANE Select | NP_071731.1:p.Leu308= |