Canonical Allele Identifier: CA348051076

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs967018496
• MyVariant Identifiers: chr2:g.109524431C>G (hg19) ; chr2:g.108907975C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907975C>G , CM000664.2:g.108907975C>G	GRCh38
NC_000002.11:g.109524431C>G , CM000664.1:g.109524431C>G	GRCh37
NC_000002.10:g.108890863C>G	NCBI36
NG_008257.1:g.86398G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.848G>C (EDAR) MANE Select	ENSP00000258443.2:p.Ser283Thr
ENST00000258443.6:c.848G>C (EDAR)	ENSP00000258443.2:p.Ser283Thr
ENST00000376651.1:c.944G>C (EDAR)	ENSP00000365839.1:p.Ser315Thr
ENST00000409271.5:c.944G>C (EDAR)	ENSP00000386371.1:p.Ser315Thr
NM_022336.3:c.848G>C (EDAR)	NP_071731.1:p.Ser283Thr
XM_006712204.1:c.944G>C (EDAR)	XP_006712267.1:p.Ser315Thr
XM_011510502.1:c.995G>C (EDAR)	XP_011508804.1:p.Ser332Thr
XM_011510503.1:c.899G>C (EDAR)	XP_011508805.1:p.Ser300Thr
XM_011510504.1:c.275G>C (EDAR)	XP_011508806.1:p.Ser92Thr
XM_011510502.2:c.1088G>C (EDAR)	XP_011508804.2:p.Ser363Thr
XM_011510503.2:c.992G>C (EDAR)	XP_011508805.2:p.Ser331Thr
XM_017004623.2:c.8370+134929C>G (RANBP2)	XP_016860112.1:n.8370+134929C>G
NM_022336.4:c.848G>C (EDAR) MANE Select	NP_071731.1:p.Ser283Thr