Canonical Allele Identifier: CA249814
Gene: EDAR HGNC NCBI
RANBP2 HGNC NCBI
COSMIC:
COSM3766487 (not active)
MyVariant.info:
GRCh38 chr2:g.108910917A>G
GRCh37 chr2:g.109527373A>G
Revel Score:
ENST00000409271 0.101
ENST00000376651 0.101
gnomAD v2:
2:109527373 A / G
gnomAD v3:
2:108910917 A / G
gnomAD v4:
chr2-108910917-A-G
Joint Max Group AF 0.99097946 (EAS)
Genomes Max Group AF 0.97393201 (EAS)
Exomes Max Group AF 0.99075485 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108910917A>G , CM000664.2:g.108910917A>G GRCh38
NC_000002.11:g.109527373A>G , CM000664.1:g.109527373A>G GRCh37
NC_000002.10:g.108893805A>G NCBI36
NG_008257.1:g.83456T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.655+30T>C (EDAR) MANE Select ENSP00000258443.2:n.655+30T>C
ENST00000258443.6:c.655+30T>C (EDAR) ENSP00000258443.2:n.655+30T>C
ENST00000376651.1:c.685T>C (EDAR) ENSP00000365839.1:p.Phe229Leu
ENST00000409271.5:c.685T>C (EDAR) ENSP00000386371.1:p.Phe229Leu
NM_022336.3:c.655+30T>C (EDAR) NP_071731.1:n.655+30T>C
XM_006712204.1:c.685T>C (EDAR) XP_006712267.1:p.Phe229Leu
XM_011510502.1:c.736T>C (EDAR) XP_011508804.1:p.Phe246Leu
XM_011510503.1:c.706+30T>C (EDAR) XP_011508805.1:n.706+30T>C
XM_011510504.1:c.82+30T>C (EDAR) XP_011508806.1:n.82+30T>C
XM_011510502.2:c.829T>C (EDAR) XP_011508804.2:p.Phe277Leu
XM_011510503.2:c.799+30T>C (EDAR) XP_011508805.2:n.799+30T>C
XM_017004623.2:c.8370+137871A>G (RANBP2) XP_016860112.1:n.8370+137871A>G
NM_022336.4:c.655+30T>C (EDAR) MANE Select NP_071731.1:n.655+30T>C
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