Canonical Allele Identifier: CA1825249

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 463880
• ClinVar RCV Id: RCV001261887 ; RCV002231728 ; RCV003105949
• dbSNP Id: rs151195196
• ExAC: 2:109547428 C / T
• gnomAD v2: 2-109547428-C-T
• gnomAD v3: 2-108930972-C-T
• gnomAD v4: 2-108930972-C-T
• MyVariant Identifiers: chr2:g.109547428C>T (hg19) ; chr2:g.108930972C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108930972C>T , CM000664.2:g.108930972C>T	GRCh38
NC_000002.11:g.109547428C>T , CM000664.1:g.109547428C>T	GRCh37
NC_000002.10:g.108913860C>T	NCBI36
NG_008257.1:g.63401G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.43G>A (EDAR) MANE Select	ENSP00000258443.2:p.Val15Ile
ENST00000258443.6:c.43G>A (EDAR)	ENSP00000258443.2:p.Val15Ile
ENST00000376651.1:c.43G>A (EDAR)	ENSP00000365839.1:p.Val15Ile
ENST00000409271.5:c.43G>A (EDAR)	ENSP00000386371.1:p.Val15Ile
NM_022336.3:c.43G>A (EDAR)	NP_071731.1:p.Val15Ile
XM_006712204.1:c.43G>A (EDAR)	XP_006712267.1:p.Val15Ile
XM_011510502.1:c.94G>A (EDAR)	XP_011508804.1:p.Val32Ile
XM_011510503.1:c.94G>A (EDAR)	XP_011508805.1:p.Val32Ile
XM_011510502.2:c.187G>A (EDAR)	XP_011508804.2:p.Val63Ile
XM_011510503.2:c.187G>A (EDAR)	XP_011508805.2:p.Val63Ile
XM_017004623.2:c.8370+157926C>T (RANBP2)	XP_016860112.1:n.8370+157926C>T
NM_022336.4:c.43G>A (EDAR) MANE Select	NP_071731.1:p.Val15Ile