Canonical Allele Identifier: CA348050961

Gene: EDAR RANBP2

Linked Data

• COSMIC: COSM145356 ; COSM4782238
• MyVariant Identifiers: chr2:g.109524377C>T (hg19) ; chr2:g.108907921C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907921C>T , CM000664.2:g.108907921C>T	GRCh38
NC_000002.11:g.109524377C>T , CM000664.1:g.109524377C>T	GRCh37
NC_000002.10:g.108890809C>T	NCBI36
NG_008257.1:g.86452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.902G>A (EDAR) MANE Select	ENSP00000258443.2:p.Cys301Tyr
ENST00000258443.6:c.902G>A (EDAR)	ENSP00000258443.2:p.Cys301Tyr
ENST00000376651.1:c.998G>A (EDAR)	ENSP00000365839.1:p.Cys333Tyr
ENST00000409271.5:c.998G>A (EDAR)	ENSP00000386371.1:p.Cys333Tyr
NM_022336.3:c.902G>A (EDAR)	NP_071731.1:p.Cys301Tyr
XM_006712204.1:c.998G>A (EDAR)	XP_006712267.1:p.Cys333Tyr
XM_011510502.1:c.1049G>A (EDAR)	XP_011508804.1:p.Cys350Tyr
XM_011510503.1:c.953G>A (EDAR)	XP_011508805.1:p.Cys318Tyr
XM_011510504.1:c.329G>A (EDAR)	XP_011508806.1:p.Cys110Tyr
XM_011510502.2:c.1142G>A (EDAR)	XP_011508804.2:p.Cys381Tyr
XM_011510503.2:c.1046G>A (EDAR)	XP_011508805.2:p.Cys349Tyr
XM_017004623.2:c.8370+134875C>T (RANBP2)	XP_016860112.1:n.8370+134875C>T
NM_022336.4:c.902G>A (EDAR) MANE Select	NP_071731.1:p.Cys301Tyr