Canonical Allele Identifier: CA2842691037

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929349dup , CM000664.2:g.108929349dup	GRCh38
NC_000002.11:g.109545805dup , CM000664.1:g.109545805dup	GRCh37
NC_000002.10:g.108912237dup	NCBI36
NG_008257.1:g.65024dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.205dup (EDAR) MANE Select	ENSP00000258443.2:p.Tyr69LeufsTer26
ENST00000258443.6:c.205dup (EDAR)	ENSP00000258443.2:p.Tyr69LeufsTer26
ENST00000376651.1:c.205dup (EDAR)	ENSP00000365839.1:p.Tyr69LeufsTer26
ENST00000409271.5:c.205dup (EDAR)	ENSP00000386371.1:p.Tyr69LeufsTer26
NM_022336.3:c.205dup (EDAR)	NP_071731.1:p.Tyr69LeufsTer26
XM_006712204.1:c.205dup (EDAR)	XP_006712267.1:p.Tyr69LeufsTer26
XM_011510502.1:c.256dup (EDAR)	XP_011508804.1:p.Tyr86LeufsTer26
XM_011510503.1:c.256dup (EDAR)	XP_011508805.1:p.Tyr86LeufsTer26
XM_011510502.2:c.349dup (EDAR)	XP_011508804.2:p.Tyr117LeufsTer26
XM_011510503.2:c.349dup (EDAR)	XP_011508805.2:p.Tyr117LeufsTer26
XM_017004623.2:c.8370+156303dup (RANBP2)	XP_016860112.1:n.8370+156303dup
NM_022336.4:c.205dup (EDAR) MANE Select	NP_071731.1:p.Tyr69LeufsTer26