Canonical Allele Identifier: CA348115555

Gene: EDAR RANBP2

Linked Data

• COSMIC: COSM6087431 ; COSM6087432
• MyVariant Identifiers: chr2:g.109545663C>T (hg19) ; chr2:g.108929207C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929207C>T , CM000664.2:g.108929207C>T	GRCh38
NC_000002.11:g.109545663C>T , CM000664.1:g.109545663C>T	GRCh37
NC_000002.10:g.108912095C>T	NCBI36
NG_008257.1:g.65166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.347G>A (EDAR) MANE Select	ENSP00000258443.2:p.Cys116Tyr
ENST00000258443.6:c.347G>A (EDAR)	ENSP00000258443.2:p.Cys116Tyr
ENST00000376651.1:c.347G>A (EDAR)	ENSP00000365839.1:p.Cys116Tyr
ENST00000409271.5:c.347G>A (EDAR)	ENSP00000386371.1:p.Cys116Tyr
NM_022336.3:c.347G>A (EDAR)	NP_071731.1:p.Cys116Tyr
XM_006712204.1:c.347G>A (EDAR)	XP_006712267.1:p.Cys116Tyr
XM_011510502.1:c.398G>A (EDAR)	XP_011508804.1:p.Cys133Tyr
XM_011510503.1:c.398G>A (EDAR)	XP_011508805.1:p.Cys133Tyr
XM_011510502.2:c.491G>A (EDAR)	XP_011508804.2:p.Cys164Tyr
XM_011510503.2:c.491G>A (EDAR)	XP_011508805.2:p.Cys164Tyr
XM_017004623.2:c.8370+156161C>T (RANBP2)	XP_016860112.1:n.8370+156161C>T
NM_022336.4:c.347G>A (EDAR) MANE Select	NP_071731.1:p.Cys116Tyr