Canonical Allele Identifier: CA253634

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 5860
• ClinVar RCV Id: RCV000006218 ; RCV001729338
• dbSNP Id: rs797044437
• MyVariant Identifiers: chr2:g.109526915C>T (hg19) ; chr2:g.108910459C>T (hg38)
• PubMed: PMID:18816645

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108910459C>T , CM000664.2:g.108910459C>T	GRCh38
NC_000002.11:g.109526915C>T , CM000664.1:g.109526915C>T	GRCh37
NC_000002.10:g.108893347C>T	NCBI36
NG_008257.1:g.83914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.803+1G>A (EDAR) MANE Select	ENSP00000258443.2:n.803+1G>A
ENST00000258443.6:c.803+1G>A (EDAR)	ENSP00000258443.2:n.803+1G>A
ENST00000376651.1:c.899+1G>A (EDAR)	ENSP00000365839.1:n.899+1G>A
ENST00000409271.5:c.899+1G>A (EDAR)	ENSP00000386371.1:n.899+1G>A
NM_022336.3:c.803+1G>A (EDAR)	NP_071731.1:n.803+1G>A
XM_006712204.1:c.899+1G>A (EDAR)	XP_006712267.1:n.899+1G>A
XM_011510502.1:c.950+1G>A (EDAR)	XP_011508804.1:n.950+1G>A
XM_011510503.1:c.854+1G>A (EDAR)	XP_011508805.1:n.854+1G>A
XM_011510504.1:c.230+1G>A (EDAR)	XP_011508806.1:n.230+1G>A
XM_011510502.2:c.1043+1G>A (EDAR)	XP_011508804.2:n.1043+1G>A
XM_011510503.2:c.947+1G>A (EDAR)	XP_011508805.2:n.947+1G>A
XM_017004623.2:c.8370+137413C>T (RANBP2)	XP_016860112.1:n.8370+137413C>T
NM_022336.4:c.803+1G>A (EDAR) MANE Select	NP_071731.1:n.803+1G>A