Canonical Allele Identifier: CA754920757

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1461658709
• gnomAD v3: 2-108959307-G-GATGGAGAGATGACCTGGTGT
• gnomAD v4: 2-108959307-G-GATGGAGAGATGACCTGGTGT
• MyVariant Identifiers: chr2:g.109575763_109575764insATGGAGAGATGACCTGGTGT (hg19) ; chr2:g.108959307_108959308insATGGAGAGATGACCTGGTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108959308_108959327dup , CM000664.2:g.108959308_108959327dup	GRCh38
NC_000002.11:g.109575764_109575783dup , CM000664.1:g.109575764_109575783dup	GRCh37
NC_000002.10:g.108942196_108942215dup	NCBI36
NG_008257.1:g.35046_35065dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.-18-28295_-18-28276dup (EDAR) MANE Select	ENSP00000258443.2:n.-18-28295_-18-28276dup
ENST00000258443.6:c.-18-28295_-18-28276dup (EDAR)	ENSP00000258443.2:n.-18-28295_-18-28276dup
ENST00000376651.1:c.-18-28295_-18-28276dup (EDAR)	ENSP00000365839.1:n.-18-28295_-18-28276dup
ENST00000409271.5:c.-134-19001_-134-18982dup (EDAR)	ENSP00000386371.1:n.-134-19001_-134-18982dup
NM_022336.3:c.-18-28295_-18-28276dup (EDAR)	NP_071731.1:n.-18-28295_-18-28276dup
XM_006712204.1:c.-18-28295_-18-28276dup (EDAR)	XP_006712267.1:n.-18-28295_-18-28276dup
XM_011510502.1:c.33+6296_33+6315dup (EDAR)	XP_011508804.1:n.33+6296_33+6315dup
XM_011510503.1:c.33+6296_33+6315dup (EDAR)	XP_011508805.1:n.33+6296_33+6315dup
XM_011510502.2:c.126+6296_126+6315dup (EDAR)	XP_011508804.2:n.126+6296_126+6315dup
XM_011510503.2:c.126+6296_126+6315dup (EDAR)	XP_011508805.2:n.126+6296_126+6315dup
XM_017004623.2:c.8370+186262_8370+186281dup (RANBP2)	XP_016860112.1:n.8370+186262_8370+186281dup
NM_022336.4:c.-18-28295_-18-28276dup (EDAR) MANE Select	NP_071731.1:n.-18-28295_-18-28276dup