Canonical Allele Identifier: CA348115558

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109545666G>C (hg19) ; chr2:g.108929210G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929210G>C , CM000664.2:g.108929210G>C	GRCh38
NC_000002.11:g.109545666G>C , CM000664.1:g.109545666G>C	GRCh37
NC_000002.10:g.108912098G>C	NCBI36
NG_008257.1:g.65163C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.344C>G (EDAR) MANE Select	ENSP00000258443.2:p.Pro115Arg
ENST00000258443.6:c.344C>G (EDAR)	ENSP00000258443.2:p.Pro115Arg
ENST00000376651.1:c.344C>G (EDAR)	ENSP00000365839.1:p.Pro115Arg
ENST00000409271.5:c.344C>G (EDAR)	ENSP00000386371.1:p.Pro115Arg
NM_022336.3:c.344C>G (EDAR)	NP_071731.1:p.Pro115Arg
XM_006712204.1:c.344C>G (EDAR)	XP_006712267.1:p.Pro115Arg
XM_011510502.1:c.395C>G (EDAR)	XP_011508804.1:p.Pro132Arg
XM_011510503.1:c.395C>G (EDAR)	XP_011508805.1:p.Pro132Arg
XM_011510502.2:c.488C>G (EDAR)	XP_011508804.2:p.Pro163Arg
XM_011510503.2:c.488C>G (EDAR)	XP_011508805.2:p.Pro163Arg
XM_017004623.2:c.8370+156164G>C (RANBP2)	XP_016860112.1:n.8370+156164G>C
NM_022336.4:c.344C>G (EDAR) MANE Select	NP_071731.1:p.Pro115Arg