Canonical Allele Identifier: CA1278354274

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897102C= , CM000664.2:g.108897102C=	GRCh38
NC_000002.11:g.109513558C= , CM000664.1:g.109513558C=	GRCh37
NC_000002.10:g.108879990C=	NCBI36
NG_008257.1:g.97271G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1152G= (EDAR) MANE Select	ENSP00000258443.2:p.Lys384=
ENST00000258443.6:c.1152G= (EDAR)	ENSP00000258443.2:p.Lys384=
ENST00000376651.1:c.1248G= (EDAR)	ENSP00000365839.1:p.Lys416=
ENST00000409271.5:c.1248G= (EDAR)	ENSP00000386371.1:p.Lys416=
NM_022336.3:c.1152G= (EDAR)	NP_071731.1:p.Lys384=
XM_006712204.1:c.1248G= (EDAR)	XP_006712267.1:p.Lys416=
XM_011510502.1:c.1299G= (EDAR)	XP_011508804.1:p.Lys433=
XM_011510503.1:c.1203G= (EDAR)	XP_011508805.1:p.Lys401=
XM_011510504.1:c.579G= (EDAR)	XP_011508806.1:p.Lys193=
XM_011510502.2:c.1392G= (EDAR)	XP_011508804.2:p.Lys464=
XM_011510503.2:c.1296G= (EDAR)	XP_011508805.2:p.Lys432=
XM_017004623.2:c.8370+124056C= (RANBP2)	XP_016860112.1:n.8370+124056C=
NM_022336.4:c.1152G= (EDAR) MANE Select	NP_071731.1:p.Lys384=