Canonical Allele Identifier: CA1278354064

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1696598574
• gnomAD v4: 2-108896655-A-ATGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896661_108896664dup , CM000664.2:g.108896661_108896664dup	GRCh38
NC_000002.11:g.109513117_109513120dup , CM000664.1:g.109513117_109513120dup	GRCh37
NC_000002.10:g.108879549_108879552dup	NCBI36
NG_008257.1:g.97714_97717dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.*248_*251dup (EDAR) MANE Select	ENSP00000258443.2:n.*248_*251dup
ENST00000258443.6:c.*248_*251dup (EDAR)	ENSP00000258443.2:n.*248_*251dup
ENST00000376651.1:c.*248_*251dup (EDAR)	ENSP00000365839.1:n.*248_*251dup
ENST00000409271.5:c.*248_*251dup (EDAR)	ENSP00000386371.1:n.*248_*251dup
NM_022336.3:c.*248_*251dup (EDAR)	NP_071731.1:n.*248_*251dup
XM_006712204.1:c.*248_*251dup (EDAR)	XP_006712267.1:n.*248_*251dup
XM_011510502.1:c.*248_*251dup (EDAR)	XP_011508804.1:n.*248_*251dup
XM_011510503.1:c.*248_*251dup (EDAR)	XP_011508805.1:n.*248_*251dup
XM_011510504.1:c.*248_*251dup (EDAR)	XP_011508806.1:n.*248_*251dup
XM_011510502.2:c.*248_*251dup (EDAR)	XP_011508804.2:n.*248_*251dup
XM_011510503.2:c.*248_*251dup (EDAR)	XP_011508805.2:n.*248_*251dup
XM_017004623.2:c.8370+123615_8370+123618dup (RANBP2)	XP_016860112.1:n.8370+123615_8370+123618dup
NM_022336.4:c.*248_*251dup (EDAR) MANE Select	NP_071731.1:n.*248_*251dup