Canonical Allele Identifier: CA348050934

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108907907-C-T
• MyVariant Identifiers: chr2:g.109524363C>T (hg19) ; chr2:g.108907907C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907907C>T , CM000664.2:g.108907907C>T	GRCh38
NC_000002.11:g.109524363C>T , CM000664.1:g.109524363C>T	GRCh37
NC_000002.10:g.108890795C>T	NCBI36
NG_008257.1:g.86466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.916G>A (EDAR) MANE Select	ENSP00000258443.2:p.Val306Ile
ENST00000258443.6:c.916G>A (EDAR)	ENSP00000258443.2:p.Val306Ile
ENST00000376651.1:c.1012G>A (EDAR)	ENSP00000365839.1:p.Val338Ile
ENST00000409271.5:c.1012G>A (EDAR)	ENSP00000386371.1:p.Val338Ile
NM_022336.3:c.916G>A (EDAR)	NP_071731.1:p.Val306Ile
XM_006712204.1:c.1012G>A (EDAR)	XP_006712267.1:p.Val338Ile
XM_011510502.1:c.1063G>A (EDAR)	XP_011508804.1:p.Val355Ile
XM_011510503.1:c.967G>A (EDAR)	XP_011508805.1:p.Val323Ile
XM_011510504.1:c.343G>A (EDAR)	XP_011508806.1:p.Val115Ile
XM_011510502.2:c.1156G>A (EDAR)	XP_011508804.2:p.Val386Ile
XM_011510503.2:c.1060G>A (EDAR)	XP_011508805.2:p.Val354Ile
XM_017004623.2:c.8370+134861C>T (RANBP2)	XP_016860112.1:n.8370+134861C>T
NM_022336.4:c.916G>A (EDAR) MANE Select	NP_071731.1:p.Val306Ile