Canonical Allele Identifier: CA427911958

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108907977-C-T
• COSMIC: COSM1659474
• MyVariant Identifiers: chr2:g.109524433C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907977C>T , CM000664.2:g.108907977C>T	GRCh38
NC_000002.11:g.109524433C>T , CM000664.1:g.109524433C>T	GRCh37
NC_000002.10:g.108890865C>T	NCBI36
NG_008257.1:g.86396G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.846G>A (EDAR) MANE Select	ENSP00000258443.2:p.Arg282=
ENST00000258443.6:c.846G>A (EDAR)	ENSP00000258443.2:p.Arg282=
ENST00000376651.1:c.942G>A (EDAR)	ENSP00000365839.1:p.Arg314=
ENST00000409271.5:c.942G>A (EDAR)	ENSP00000386371.1:p.Arg314=
NM_022336.3:c.846G>A (EDAR)	NP_071731.1:p.Arg282=
XM_006712204.1:c.942G>A (EDAR)	XP_006712267.1:p.Arg314=
XM_011510502.1:c.993G>A (EDAR)	XP_011508804.1:p.Arg331=
XM_011510503.1:c.897G>A (EDAR)	XP_011508805.1:p.Arg299=
XM_011510504.1:c.273G>A (EDAR)	XP_011508806.1:p.Arg91=
XM_011510502.2:c.1086G>A (EDAR)	XP_011508804.2:p.Arg362=
XM_011510503.2:c.990G>A (EDAR)	XP_011508805.2:p.Arg330=
XM_017004623.2:c.8370+134931C>T (RANBP2)	XP_016860112.1:n.8370+134931C>T
NM_022336.4:c.846G>A (EDAR) MANE Select	NP_071731.1:p.Arg282=