Canonical Allele Identifier: CA348047717

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 2495314
• ClinVar RCV Id: RCV003213475
• COSMIC: COSM329339
• MyVariant Identifiers: chr2:g.109513443C>T (hg19) ; chr2:g.108896987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896987C>T , CM000664.2:g.108896987C>T	GRCh38
NC_000002.11:g.109513443C>T , CM000664.1:g.109513443C>T	GRCh37
NC_000002.10:g.108879875C>T	NCBI36
NG_008257.1:g.97386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1267G>A (EDAR) MANE Select	ENSP00000258443.2:p.Ala423Thr
ENST00000258443.6:c.1267G>A (EDAR)	ENSP00000258443.2:p.Ala423Thr
ENST00000376651.1:c.1363G>A (EDAR)	ENSP00000365839.1:p.Ala455Thr
ENST00000409271.5:c.1363G>A (EDAR)	ENSP00000386371.1:p.Ala455Thr
NM_022336.3:c.1267G>A (EDAR)	NP_071731.1:p.Ala423Thr
XM_006712204.1:c.1363G>A (EDAR)	XP_006712267.1:p.Ala455Thr
XM_011510502.1:c.1414G>A (EDAR)	XP_011508804.1:p.Ala472Thr
XM_011510503.1:c.1318G>A (EDAR)	XP_011508805.1:p.Ala440Thr
XM_011510504.1:c.694G>A (EDAR)	XP_011508806.1:p.Ala232Thr
XM_011510502.2:c.1507G>A (EDAR)	XP_011508804.2:p.Ala503Thr
XM_011510503.2:c.1411G>A (EDAR)	XP_011508805.2:p.Ala471Thr
XM_017004623.2:c.8370+123941C>T (RANBP2)	XP_016860112.1:n.8370+123941C>T
NM_022336.4:c.1267G>A (EDAR) MANE Select	NP_071731.1:p.Ala423Thr