Canonical Allele Identifier: CA53473616

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs192437310
• gnomAD v2: 2-109524599-A-T
• gnomAD v3: 2-108908143-A-T
• gnomAD v4: 2-108908143-A-T
• MyVariant Identifiers: chr2:g.109524599A>T (hg19) ; chr2:g.108908143A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908143A>T , CM000664.2:g.108908143A>T	GRCh38
NC_000002.11:g.109524599A>T , CM000664.1:g.109524599A>T	GRCh37
NC_000002.10:g.108891031A>T	NCBI36
NG_008257.1:g.86230T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.804-124T>A (EDAR) MANE Select	ENSP00000258443.2:n.804-124T>A
ENST00000258443.6:c.804-124T>A (EDAR)	ENSP00000258443.2:n.804-124T>A
ENST00000376651.1:c.900-124T>A (EDAR)	ENSP00000365839.1:n.900-124T>A
ENST00000409271.5:c.900-124T>A (EDAR)	ENSP00000386371.1:n.900-124T>A
NM_022336.3:c.804-124T>A (EDAR)	NP_071731.1:n.804-124T>A
XM_006712204.1:c.900-124T>A (EDAR)	XP_006712267.1:n.900-124T>A
XM_011510502.1:c.951-124T>A (EDAR)	XP_011508804.1:n.951-124T>A
XM_011510503.1:c.855-124T>A (EDAR)	XP_011508805.1:n.855-124T>A
XM_011510504.1:c.231-124T>A (EDAR)	XP_011508806.1:n.231-124T>A
XM_011510502.2:c.1044-124T>A (EDAR)	XP_011508804.2:n.1044-124T>A
XM_011510503.2:c.948-124T>A (EDAR)	XP_011508805.2:n.948-124T>A
XM_017004623.2:c.8370+135097A>T (RANBP2)	XP_016860112.1:n.8370+135097A>T
NM_022336.4:c.804-124T>A (EDAR) MANE Select	NP_071731.1:n.804-124T>A