Canonical Allele Identifier: CA2838427741

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108910801dup , CM000664.2:g.108910801dup	GRCh38
NC_000002.11:g.109527257dup , CM000664.1:g.109527257dup	GRCh37
NC_000002.10:g.108893689dup	NCBI36
NG_008257.1:g.83573dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.706dup (EDAR) MANE Select	ENSP00000258443.2:p.Asp236GlyfsTer19
ENST00000258443.6:c.706dup (EDAR)	ENSP00000258443.2:p.Asp236GlyfsTer19
ENST00000376651.1:c.802dup (EDAR)	ENSP00000365839.1:p.Asp268GlyfsTer19
ENST00000409271.5:c.802dup (EDAR)	ENSP00000386371.1:p.Asp268GlyfsTer19
NM_022336.3:c.706dup (EDAR)	NP_071731.1:p.Asp236GlyfsTer19
XM_006712204.1:c.802dup (EDAR)	XP_006712267.1:p.Asp268GlyfsTer19
XM_011510502.1:c.853dup (EDAR)	XP_011508804.1:p.Asp285GlyfsTer19
XM_011510503.1:c.757dup (EDAR)	XP_011508805.1:p.Asp253GlyfsTer19
XM_011510504.1:c.133dup (EDAR)	XP_011508806.1:p.Asp45GlyfsTer19
XM_011510502.2:c.946dup (EDAR)	XP_011508804.2:p.Asp316GlyfsTer19
XM_011510503.2:c.850dup (EDAR)	XP_011508805.2:p.Asp284GlyfsTer19
XM_017004623.2:c.8370+137755dup (RANBP2)	XP_016860112.1:n.8370+137755dup
NM_022336.4:c.706dup (EDAR) MANE Select	NP_071731.1:p.Asp236GlyfsTer19