Canonical Allele Identifier: CA1034848335

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1295344944
• gnomAD v3: 2-108959204-G-C
• gnomAD v4: 2-108959204-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108959204G>C , CM000664.2:g.108959204G>C	GRCh38
NC_000002.11:g.109575660G>C , CM000664.1:g.109575660G>C	GRCh37
NC_000002.10:g.108942092G>C	NCBI36
NG_008257.1:g.35169C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.-18-28172C>G (EDAR) MANE Select	ENSP00000258443.2:n.-18-28172C>G
ENST00000258443.6:c.-18-28172C>G (EDAR)	ENSP00000258443.2:n.-18-28172C>G
ENST00000376651.1:c.-18-28172C>G (EDAR)	ENSP00000365839.1:n.-18-28172C>G
ENST00000409271.5:c.-134-18878C>G (EDAR)	ENSP00000386371.1:n.-134-18878C>G
NM_022336.3:c.-18-28172C>G (EDAR)	NP_071731.1:n.-18-28172C>G
XM_006712204.1:c.-18-28172C>G (EDAR)	XP_006712267.1:n.-18-28172C>G
XM_011510502.1:c.33+6419C>G (EDAR)	XP_011508804.1:n.33+6419C>G
XM_011510503.1:c.33+6419C>G (EDAR)	XP_011508805.1:n.33+6419C>G
XM_011510502.2:c.126+6419C>G (EDAR)	XP_011508804.2:n.126+6419C>G
XM_011510503.2:c.126+6419C>G (EDAR)	XP_011508805.2:n.126+6419C>G
XM_017004623.2:c.8370+186158G>C (RANBP2)	XP_016860112.1:n.8370+186158G>C
NM_022336.4:c.-18-28172C>G (EDAR) MANE Select	NP_071731.1:n.-18-28172C>G