Canonical Allele Identifier: CA1034848342

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1697989368
• gnomAD v3: 2-108959252-A-G
• gnomAD v4: 2-108959252-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108959252A>G , CM000664.2:g.108959252A>G	GRCh38
NC_000002.11:g.109575708A>G , CM000664.1:g.109575708A>G	GRCh37
NC_000002.10:g.108942140A>G	NCBI36
NG_008257.1:g.35121T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.-18-28220T>C (EDAR) MANE Select	ENSP00000258443.2:n.-18-28220T>C
ENST00000258443.6:c.-18-28220T>C (EDAR)	ENSP00000258443.2:n.-18-28220T>C
ENST00000376651.1:c.-18-28220T>C (EDAR)	ENSP00000365839.1:n.-18-28220T>C
ENST00000409271.5:c.-134-18926T>C (EDAR)	ENSP00000386371.1:n.-134-18926T>C
NM_022336.3:c.-18-28220T>C (EDAR)	NP_071731.1:n.-18-28220T>C
XM_006712204.1:c.-18-28220T>C (EDAR)	XP_006712267.1:n.-18-28220T>C
XM_011510502.1:c.33+6371T>C (EDAR)	XP_011508804.1:n.33+6371T>C
XM_011510503.1:c.33+6371T>C (EDAR)	XP_011508805.1:n.33+6371T>C
XM_011510502.2:c.126+6371T>C (EDAR)	XP_011508804.2:n.126+6371T>C
XM_011510503.2:c.126+6371T>C (EDAR)	XP_011508805.2:n.126+6371T>C
XM_017004623.2:c.8370+186206A>G (RANBP2)	XP_016860112.1:n.8370+186206A>G
NM_022336.4:c.-18-28220T>C (EDAR) MANE Select	NP_071731.1:n.-18-28220T>C