Canonical Allele Identifier: CA348050709

Gene: EDAR RANBP2

Linked Data

• COSMIC: COSM6019821 ; COSM6019822
• MyVariant Identifiers: chr2:g.109524323G>A (hg19) ; chr2:g.108907867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907867G>A , CM000664.2:g.108907867G>A	GRCh38
NC_000002.11:g.109524323G>A , CM000664.1:g.109524323G>A	GRCh37
NC_000002.10:g.108890755G>A	NCBI36
NG_008257.1:g.86506C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.956C>T (EDAR) MANE Select	ENSP00000258443.2:p.Ser319Leu
ENST00000258443.6:c.956C>T (EDAR)	ENSP00000258443.2:p.Ser319Leu
ENST00000376651.1:c.1052C>T (EDAR)	ENSP00000365839.1:p.Ser351Leu
ENST00000409271.5:c.1052C>T (EDAR)	ENSP00000386371.1:p.Ser351Leu
NM_022336.3:c.956C>T (EDAR)	NP_071731.1:p.Ser319Leu
XM_006712204.1:c.1052C>T (EDAR)	XP_006712267.1:p.Ser351Leu
XM_011510502.1:c.1103C>T (EDAR)	XP_011508804.1:p.Ser368Leu
XM_011510503.1:c.1007C>T (EDAR)	XP_011508805.1:p.Ser336Leu
XM_011510504.1:c.383C>T (EDAR)	XP_011508806.1:p.Ser128Leu
XM_011510502.2:c.1196C>T (EDAR)	XP_011508804.2:p.Ser399Leu
XM_011510503.2:c.1100C>T (EDAR)	XP_011508805.2:p.Ser367Leu
XM_017004623.2:c.8370+134821G>A (RANBP2)	XP_016860112.1:n.8370+134821G>A
NM_022336.4:c.956C>T (EDAR) MANE Select	NP_071731.1:p.Ser319Leu