Canonical Allele Identifier: CA915944092

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 643058
• ClinVar RCV Id: RCV002233880
• dbSNP Id: rs1574362082

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897166del , CM000664.2:g.108897166del	GRCh38
NC_000002.11:g.109513622del , CM000664.1:g.109513622del	GRCh37
NC_000002.10:g.108880054del	NCBI36
NG_008257.1:g.97207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1088del (EDAR) MANE Select	ENSP00000258443.2:p.Thr363SerfsTer9
ENST00000258443.6:c.1088del (EDAR)	ENSP00000258443.2:p.Thr363SerfsTer9
ENST00000376651.1:c.1184del (EDAR)	ENSP00000365839.1:p.Thr395SerfsTer9
ENST00000409271.5:c.1184del (EDAR)	ENSP00000386371.1:p.Thr395SerfsTer9
NM_022336.3:c.1088del (EDAR)	NP_071731.1:p.Thr363SerfsTer9
XM_006712204.1:c.1184del (EDAR)	XP_006712267.1:p.Thr395SerfsTer9
XM_011510502.1:c.1235del (EDAR)	XP_011508804.1:p.Thr412SerfsTer9
XM_011510503.1:c.1139del (EDAR)	XP_011508805.1:p.Thr380SerfsTer9
XM_011510504.1:c.515del (EDAR)	XP_011508806.1:p.Thr172SerfsTer9
XM_011510502.2:c.1328del (EDAR)	XP_011508804.2:p.Thr443SerfsTer9
XM_011510503.2:c.1232del (EDAR)	XP_011508805.2:p.Thr411SerfsTer9
XM_017004623.2:c.8370+124120del (RANBP2)	XP_016860112.1:n.8370+124120del
NM_022336.4:c.1088del (EDAR) MANE Select	NP_071731.1:p.Thr363SerfsTer9