Canonical Allele Identifier: CA348051073

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 894530
• ClinVar RCV Id: RCV001135451
• dbSNP Id: rs145796324
• MyVariant Identifiers: chr2:g.109524430G>T (hg19) ; chr2:g.108907974G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907974G>T , CM000664.2:g.108907974G>T	GRCh38
NC_000002.11:g.109524430G>T , CM000664.1:g.109524430G>T	GRCh37
NC_000002.10:g.108890862G>T	NCBI36
NG_008257.1:g.86399C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.849C>A (EDAR) MANE Select	ENSP00000258443.2:p.Ser283Arg
ENST00000258443.6:c.849C>A (EDAR)	ENSP00000258443.2:p.Ser283Arg
ENST00000376651.1:c.945C>A (EDAR)	ENSP00000365839.1:p.Ser315Arg
ENST00000409271.5:c.945C>A (EDAR)	ENSP00000386371.1:p.Ser315Arg
NM_022336.3:c.849C>A (EDAR)	NP_071731.1:p.Ser283Arg
XM_006712204.1:c.945C>A (EDAR)	XP_006712267.1:p.Ser315Arg
XM_011510502.1:c.996C>A (EDAR)	XP_011508804.1:p.Ser332Arg
XM_011510503.1:c.900C>A (EDAR)	XP_011508805.1:p.Ser300Arg
XM_011510504.1:c.276C>A (EDAR)	XP_011508806.1:p.Ser92Arg
XM_011510502.2:c.1089C>A (EDAR)	XP_011508804.2:p.Ser363Arg
XM_011510503.2:c.993C>A (EDAR)	XP_011508805.2:p.Ser331Arg
XM_017004623.2:c.8370+134928G>T (RANBP2)	XP_016860112.1:n.8370+134928G>T
NM_022336.4:c.849C>A (EDAR) MANE Select	NP_071731.1:p.Ser283Arg