Canonical Allele Identifier: CA2660592868

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108908089-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908089G>A , CM000664.2:g.108908089G>A	GRCh38
NC_000002.11:g.109524545G>A , CM000664.1:g.109524545G>A	GRCh37
NC_000002.10:g.108890977G>A	NCBI36
NG_008257.1:g.86284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.804-70C>T (EDAR) MANE Select	ENSP00000258443.2:n.804-70C>T
ENST00000258443.6:c.804-70C>T (EDAR)	ENSP00000258443.2:n.804-70C>T
ENST00000376651.1:c.900-70C>T (EDAR)	ENSP00000365839.1:n.900-70C>T
ENST00000409271.5:c.900-70C>T (EDAR)	ENSP00000386371.1:n.900-70C>T
NM_022336.3:c.804-70C>T (EDAR)	NP_071731.1:n.804-70C>T
XM_006712204.1:c.900-70C>T (EDAR)	XP_006712267.1:n.900-70C>T
XM_011510502.1:c.951-70C>T (EDAR)	XP_011508804.1:n.951-70C>T
XM_011510503.1:c.855-70C>T (EDAR)	XP_011508805.1:n.855-70C>T
XM_011510504.1:c.231-70C>T (EDAR)	XP_011508806.1:n.231-70C>T
XM_011510502.2:c.1044-70C>T (EDAR)	XP_011508804.2:n.1044-70C>T
XM_011510503.2:c.948-70C>T (EDAR)	XP_011508805.2:n.948-70C>T
XM_017004623.2:c.8370+135043G>A (RANBP2)	XP_016860112.1:n.8370+135043G>A
NM_022336.4:c.804-70C>T (EDAR) MANE Select	NP_071731.1:n.804-70C>T