Canonical Allele Identifier: CA16617224
Gene: EDAR HGNC NCBI
RANBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418175
ClinVar RCV Id: RCV000484954
dbSNP Id: rs1064793107
MyVariant Identifiers: chr2:g.109513481T>C (hg19) chr2:g.108897025T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108897025T>C , CM000664.2:g.108897025T>C GRCh38
NC_000002.11:g.109513481T>C , CM000664.1:g.109513481T>C GRCh37
NC_000002.10:g.108879913T>C NCBI36
NG_008257.1:g.97348A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.1229A>G (EDAR) MANE Select ENSP00000258443.2:p.Glu410Gly
ENST00000258443.6:c.1229A>G (EDAR) ENSP00000258443.2:p.Glu410Gly
ENST00000376651.1:c.1325A>G (EDAR) ENSP00000365839.1:p.Glu442Gly
ENST00000409271.5:c.1325A>G (EDAR) ENSP00000386371.1:p.Glu442Gly
NM_022336.3:c.1229A>G (EDAR) NP_071731.1:p.Glu410Gly
XM_006712204.1:c.1325A>G (EDAR) XP_006712267.1:p.Glu442Gly
XM_011510502.1:c.1376A>G (EDAR) XP_011508804.1:p.Glu459Gly
XM_011510503.1:c.1280A>G (EDAR) XP_011508805.1:p.Glu427Gly
XM_011510504.1:c.656A>G (EDAR) XP_011508806.1:p.Glu219Gly
XM_011510502.2:c.1469A>G (EDAR) XP_011508804.2:p.Glu490Gly
XM_011510503.2:c.1373A>G (EDAR) XP_011508805.2:p.Glu458Gly
XM_017004623.2:c.8370+123979T>C (RANBP2) XP_016860112.1:n.8370+123979T>C
NM_022336.4:c.1229A>G (EDAR) MANE Select NP_071731.1:p.Glu410Gly
Search 100 bp 5'
Search 100 bp 3'