Canonical Allele Identifier: CA348050737
Gene: EDAR HGNC NCBI
RANBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.109524329T>G (hg19) chr2:g.108907873T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907873T>G , CM000664.2:g.108907873T>G GRCh38
NC_000002.11:g.109524329T>G , CM000664.1:g.109524329T>G GRCh37
NC_000002.10:g.108890761T>G NCBI36
NG_008257.1:g.86500A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258443.7:c.950A>C (EDAR) MANE Select ENSP00000258443.2:p.Asn317Thr
ENST00000258443.6:c.950A>C (EDAR) ENSP00000258443.2:p.Asn317Thr
ENST00000376651.1:c.1046A>C (EDAR) ENSP00000365839.1:p.Asn349Thr
ENST00000409271.5:c.1046A>C (EDAR) ENSP00000386371.1:p.Asn349Thr
NM_022336.3:c.950A>C (EDAR) NP_071731.1:p.Asn317Thr
XM_006712204.1:c.1046A>C (EDAR) XP_006712267.1:p.Asn349Thr
XM_011510502.1:c.1097A>C (EDAR) XP_011508804.1:p.Asn366Thr
XM_011510503.1:c.1001A>C (EDAR) XP_011508805.1:p.Asn334Thr
XM_011510504.1:c.377A>C (EDAR) XP_011508806.1:p.Asn126Thr
XM_011510502.2:c.1190A>C (EDAR) XP_011508804.2:p.Asn397Thr
XM_011510503.2:c.1094A>C (EDAR) XP_011508805.2:p.Asn365Thr
XM_017004623.2:c.8370+134827T>G (RANBP2) XP_016860112.1:n.8370+134827T>G
NM_022336.4:c.950A>C (EDAR) MANE Select NP_071731.1:p.Asn317Thr
Search 100 bp 5'
Search 100 bp 3'