Canonical Allele Identifier: CA427911925

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs199544410
• gnomAD v4: 2-108907920-G-A
• MyVariant Identifiers: chr2:g.109524376G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907920G>A , CM000664.2:g.108907920G>A	GRCh38
NC_000002.11:g.109524376G>A , CM000664.1:g.109524376G>A	GRCh37
NC_000002.10:g.108890808G>A	NCBI36
NG_008257.1:g.86453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.903C>T (EDAR) MANE Select	ENSP00000258443.2:p.Cys301=
ENST00000258443.6:c.903C>T (EDAR)	ENSP00000258443.2:p.Cys301=
ENST00000376651.1:c.999C>T (EDAR)	ENSP00000365839.1:p.Cys333=
ENST00000409271.5:c.999C>T (EDAR)	ENSP00000386371.1:p.Cys333=
NM_022336.3:c.903C>T (EDAR)	NP_071731.1:p.Cys301=
XM_006712204.1:c.999C>T (EDAR)	XP_006712267.1:p.Cys333=
XM_011510502.1:c.1050C>T (EDAR)	XP_011508804.1:p.Cys350=
XM_011510503.1:c.954C>T (EDAR)	XP_011508805.1:p.Cys318=
XM_011510504.1:c.330C>T (EDAR)	XP_011508806.1:p.Cys110=
XM_011510502.2:c.1143C>T (EDAR)	XP_011508804.2:p.Cys381=
XM_011510503.2:c.1047C>T (EDAR)	XP_011508805.2:p.Cys349=
XM_017004623.2:c.8370+134874G>A (RANBP2)	XP_016860112.1:n.8370+134874G>A
NM_022336.4:c.903C>T (EDAR) MANE Select	NP_071731.1:p.Cys301=