Canonical Allele Identifier: CA2660592884

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108896631-A-ATGGTGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896643_108896650dup , CM000664.2:g.108896643_108896650dup	GRCh38
NC_000002.11:g.109513099_109513106dup , CM000664.1:g.109513099_109513106dup	GRCh37
NC_000002.10:g.108879531_108879538dup	NCBI36
NG_008257.1:g.97734_97741dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.*268_*275dup (EDAR) MANE Select	ENSP00000258443.2:n.*268_*275dup
ENST00000258443.6:c.*268_*275dup (EDAR)	ENSP00000258443.2:n.*268_*275dup
ENST00000376651.1:c.*268_*275dup (EDAR)	ENSP00000365839.1:n.*268_*275dup
ENST00000409271.5:c.*268_*275dup (EDAR)	ENSP00000386371.1:n.*268_*275dup
NM_022336.3:c.*268_*275dup (EDAR)	NP_071731.1:n.*268_*275dup
XM_006712204.1:c.*268_*275dup (EDAR)	XP_006712267.1:n.*268_*275dup
XM_011510502.1:c.*268_*275dup (EDAR)	XP_011508804.1:n.*268_*275dup
XM_011510503.1:c.*268_*275dup (EDAR)	XP_011508805.1:n.*268_*275dup
XM_011510504.1:c.*268_*275dup (EDAR)	XP_011508806.1:n.*268_*275dup
XM_011510502.2:c.*268_*275dup (EDAR)	XP_011508804.2:n.*268_*275dup
XM_011510503.2:c.*268_*275dup (EDAR)	XP_011508805.2:n.*268_*275dup
XM_017004623.2:c.8370+123597_8370+123604dup (RANBP2)	XP_016860112.1:n.8370+123597_8370+123604dup
NM_022336.4:c.*268_*275dup (EDAR) MANE Select	NP_071731.1:n.*268_*275dup