Canonical Allele Identifier: CA2580611685

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 1401027
• ClinVar RCV Id: RCV001896839
• dbSNP Id: rs2105371643

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897100_108897103dup , CM000664.2:g.108897100_108897103dup	GRCh38
NC_000002.11:g.109513556_109513559dup , CM000664.1:g.109513556_109513559dup	GRCh37
NC_000002.10:g.108879988_108879991dup	NCBI36
NG_008257.1:g.97270_97273dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1151_1154dup (EDAR) MANE Select	ENSP00000258443.2:p.Asp386GlufsTer3
ENST00000258443.6:c.1151_1154dup (EDAR)	ENSP00000258443.2:p.Asp386GlufsTer3
ENST00000376651.1:c.1247_1250dup (EDAR)	ENSP00000365839.1:p.Asp418GlufsTer3
ENST00000409271.5:c.1247_1250dup (EDAR)	ENSP00000386371.1:p.Asp418GlufsTer3
NM_022336.3:c.1151_1154dup (EDAR)	NP_071731.1:p.Asp386GlufsTer3
XM_006712204.1:c.1247_1250dup (EDAR)	XP_006712267.1:p.Asp418GlufsTer3
XM_011510502.1:c.1298_1301dup (EDAR)	XP_011508804.1:p.Asp435GlufsTer3
XM_011510503.1:c.1202_1205dup (EDAR)	XP_011508805.1:p.Asp403GlufsTer3
XM_011510504.1:c.578_581dup (EDAR)	XP_011508806.1:p.Asp195GlufsTer3
XM_011510502.2:c.1391_1394dup (EDAR)	XP_011508804.2:p.Asp466GlufsTer3
XM_011510503.2:c.1295_1298dup (EDAR)	XP_011508805.2:p.Asp434GlufsTer3
XM_017004623.2:c.8370+124054_8370+124057dup (RANBP2)	XP_016860112.1:n.8370+124054_8370+124057dup
NM_022336.4:c.1151_1154dup (EDAR) MANE Select	NP_071731.1:p.Asp386GlufsTer3