Canonical Allele Identifier: CA348050736

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524329T>C (hg19) ; chr2:g.108907873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907873T>C , CM000664.2:g.108907873T>C	GRCh38
NC_000002.11:g.109524329T>C , CM000664.1:g.109524329T>C	GRCh37
NC_000002.10:g.108890761T>C	NCBI36
NG_008257.1:g.86500A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.950A>G (EDAR) MANE Select	ENSP00000258443.2:p.Asn317Ser
ENST00000258443.6:c.950A>G (EDAR)	ENSP00000258443.2:p.Asn317Ser
ENST00000376651.1:c.1046A>G (EDAR)	ENSP00000365839.1:p.Asn349Ser
ENST00000409271.5:c.1046A>G (EDAR)	ENSP00000386371.1:p.Asn349Ser
NM_022336.3:c.950A>G (EDAR)	NP_071731.1:p.Asn317Ser
XM_006712204.1:c.1046A>G (EDAR)	XP_006712267.1:p.Asn349Ser
XM_011510502.1:c.1097A>G (EDAR)	XP_011508804.1:p.Asn366Ser
XM_011510503.1:c.1001A>G (EDAR)	XP_011508805.1:p.Asn334Ser
XM_011510504.1:c.377A>G (EDAR)	XP_011508806.1:p.Asn126Ser
XM_011510502.2:c.1190A>G (EDAR)	XP_011508804.2:p.Asn397Ser
XM_011510503.2:c.1094A>G (EDAR)	XP_011508805.2:p.Asn365Ser
XM_017004623.2:c.8370+134827T>C (RANBP2)	XP_016860112.1:n.8370+134827T>C
NM_022336.4:c.950A>G (EDAR) MANE Select	NP_071731.1:p.Asn317Ser