Canonical Allele Identifier: CA348047991

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513505C>A (hg19) ; chr2:g.108897049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897049C>A , CM000664.2:g.108897049C>A	GRCh38
NC_000002.11:g.109513505C>A , CM000664.1:g.109513505C>A	GRCh37
NC_000002.10:g.108879937C>A	NCBI36
NG_008257.1:g.97324G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1205G>T (EDAR) MANE Select	ENSP00000258443.2:p.Ser402Ile
ENST00000258443.6:c.1205G>T (EDAR)	ENSP00000258443.2:p.Ser402Ile
ENST00000376651.1:c.1301G>T (EDAR)	ENSP00000365839.1:p.Ser434Ile
ENST00000409271.5:c.1301G>T (EDAR)	ENSP00000386371.1:p.Ser434Ile
NM_022336.3:c.1205G>T (EDAR)	NP_071731.1:p.Ser402Ile
XM_006712204.1:c.1301G>T (EDAR)	XP_006712267.1:p.Ser434Ile
XM_011510502.1:c.1352G>T (EDAR)	XP_011508804.1:p.Ser451Ile
XM_011510503.1:c.1256G>T (EDAR)	XP_011508805.1:p.Ser419Ile
XM_011510504.1:c.632G>T (EDAR)	XP_011508806.1:p.Ser211Ile
XM_011510502.2:c.1445G>T (EDAR)	XP_011508804.2:p.Ser482Ile
XM_011510503.2:c.1349G>T (EDAR)	XP_011508805.2:p.Ser450Ile
XM_017004623.2:c.8370+124003C>A (RANBP2)	XP_016860112.1:n.8370+124003C>A
NM_022336.4:c.1205G>T (EDAR) MANE Select	NP_071731.1:p.Ser402Ile