Canonical Allele Identifier: CA348050306

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 463874
• ClinVar RCV Id: RCV002231724
• dbSNP Id: rs1553444895
• MyVariant Identifiers: chr2:g.109522763C>T (hg19) ; chr2:g.108906307C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108906307C>T , CM000664.2:g.108906307C>T	GRCh38
NC_000002.11:g.109522763C>T , CM000664.1:g.109522763C>T	GRCh37
NC_000002.10:g.108889195C>T	NCBI36
NG_008257.1:g.88066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1024+1G>A (EDAR) MANE Select	ENSP00000258443.2:n.1024+1G>A
ENST00000258443.6:c.1024+1G>A (EDAR)	ENSP00000258443.2:n.1024+1G>A
ENST00000376651.1:c.1120+1G>A (EDAR)	ENSP00000365839.1:n.1120+1G>A
ENST00000409271.5:c.1120+1G>A (EDAR)	ENSP00000386371.1:n.1120+1G>A
NM_022336.3:c.1024+1G>A (EDAR)	NP_071731.1:n.1024+1G>A
XM_006712204.1:c.1120+1G>A (EDAR)	XP_006712267.1:n.1120+1G>A
XM_011510502.1:c.1171+1G>A (EDAR)	XP_011508804.1:n.1171+1G>A
XM_011510503.1:c.1075+1G>A (EDAR)	XP_011508805.1:n.1075+1G>A
XM_011510504.1:c.451+1G>A (EDAR)	XP_011508806.1:n.451+1G>A
XM_011510502.2:c.1264+1G>A (EDAR)	XP_011508804.2:n.1264+1G>A
XM_011510503.2:c.1168+1G>A (EDAR)	XP_011508805.2:n.1168+1G>A
XM_017004623.2:c.8370+133261C>T (RANBP2)	XP_016860112.1:n.8370+133261C>T
NM_022336.4:c.1024+1G>A (EDAR) MANE Select	NP_071731.1:n.1024+1G>A