Canonical Allele Identifier: CA1824790

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs528478080
• ExAC: 2:109513408 C / A
• gnomAD v2: 2-109513408-C-A
• gnomAD v3: 2-108896952-C-A
• gnomAD v4: 2-108896952-C-A
• MyVariant Identifiers: chr2:g.109513408C>A (hg19) ; chr2:g.108896952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896952C>A , CM000664.2:g.108896952C>A	GRCh38
NC_000002.11:g.109513408C>A , CM000664.1:g.109513408C>A	GRCh37
NC_000002.10:g.108879840C>A	NCBI36
NG_008257.1:g.97421G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1302G>T (EDAR) MANE Select	ENSP00000258443.2:p.Trp434Cys
ENST00000258443.6:c.1302G>T (EDAR)	ENSP00000258443.2:p.Trp434Cys
ENST00000376651.1:c.1398G>T (EDAR)	ENSP00000365839.1:p.Trp466Cys
ENST00000409271.5:c.1398G>T (EDAR)	ENSP00000386371.1:p.Trp466Cys
NM_022336.3:c.1302G>T (EDAR)	NP_071731.1:p.Trp434Cys
XM_006712204.1:c.1398G>T (EDAR)	XP_006712267.1:p.Trp466Cys
XM_011510502.1:c.1449G>T (EDAR)	XP_011508804.1:p.Trp483Cys
XM_011510503.1:c.1353G>T (EDAR)	XP_011508805.1:p.Trp451Cys
XM_011510504.1:c.729G>T (EDAR)	XP_011508806.1:p.Trp243Cys
XM_011510502.2:c.1542G>T (EDAR)	XP_011508804.2:p.Trp514Cys
XM_011510503.2:c.1446G>T (EDAR)	XP_011508805.2:p.Trp482Cys
XM_017004623.2:c.8370+123906C>A (RANBP2)	XP_016860112.1:n.8370+123906C>A
NM_022336.4:c.1302G>T (EDAR) MANE Select	NP_071731.1:p.Trp434Cys