Canonical Allele Identifier: CA348050980

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524387G>T (hg19) ; chr2:g.108907931G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907931G>T , CM000664.2:g.108907931G>T	GRCh38
NC_000002.11:g.109524387G>T , CM000664.1:g.109524387G>T	GRCh37
NC_000002.10:g.108890819G>T	NCBI36
NG_008257.1:g.86442C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.892C>A (EDAR) MANE Select	ENSP00000258443.2:p.Pro298Thr
ENST00000258443.6:c.892C>A (EDAR)	ENSP00000258443.2:p.Pro298Thr
ENST00000376651.1:c.988C>A (EDAR)	ENSP00000365839.1:p.Pro330Thr
ENST00000409271.5:c.988C>A (EDAR)	ENSP00000386371.1:p.Pro330Thr
NM_022336.3:c.892C>A (EDAR)	NP_071731.1:p.Pro298Thr
XM_006712204.1:c.988C>A (EDAR)	XP_006712267.1:p.Pro330Thr
XM_011510502.1:c.1039C>A (EDAR)	XP_011508804.1:p.Pro347Thr
XM_011510503.1:c.943C>A (EDAR)	XP_011508805.1:p.Pro315Thr
XM_011510504.1:c.319C>A (EDAR)	XP_011508806.1:p.Pro107Thr
XM_011510502.2:c.1132C>A (EDAR)	XP_011508804.2:p.Pro378Thr
XM_011510503.2:c.1036C>A (EDAR)	XP_011508805.2:p.Pro346Thr
XM_017004623.2:c.8370+134885G>T (RANBP2)	XP_016860112.1:n.8370+134885G>T
NM_022336.4:c.892C>A (EDAR) MANE Select	NP_071731.1:p.Pro298Thr