Canonical Allele Identifier: CA348051172

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1350259361
• gnomAD v2: 2-109524474-C-T
• gnomAD v3: 2-108908018-C-T
• gnomAD v4: 2-108908018-C-T
• MyVariant Identifiers: chr2:g.109524474C>T (hg19) ; chr2:g.108908018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908018C>T , CM000664.2:g.108908018C>T	GRCh38
NC_000002.11:g.109524474C>T , CM000664.1:g.109524474C>T	GRCh37
NC_000002.10:g.108890906C>T	NCBI36
NG_008257.1:g.86355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.805G>A (EDAR) MANE Select	ENSP00000258443.2:p.Glu269Lys
ENST00000258443.6:c.805G>A (EDAR)	ENSP00000258443.2:p.Glu269Lys
ENST00000376651.1:c.901G>A (EDAR)	ENSP00000365839.1:p.Glu301Lys
ENST00000409271.5:c.901G>A (EDAR)	ENSP00000386371.1:p.Glu301Lys
NM_022336.3:c.805G>A (EDAR)	NP_071731.1:p.Glu269Lys
XM_006712204.1:c.901G>A (EDAR)	XP_006712267.1:p.Glu301Lys
XM_011510502.1:c.952G>A (EDAR)	XP_011508804.1:p.Glu318Lys
XM_011510503.1:c.856G>A (EDAR)	XP_011508805.1:p.Glu286Lys
XM_011510504.1:c.232G>A (EDAR)	XP_011508806.1:p.Glu78Lys
XM_011510502.2:c.1045G>A (EDAR)	XP_011508804.2:p.Glu349Lys
XM_011510503.2:c.949G>A (EDAR)	XP_011508805.2:p.Glu317Lys
XM_017004623.2:c.8370+134972C>T (RANBP2)	XP_016860112.1:n.8370+134972C>T
NM_022336.4:c.805G>A (EDAR) MANE Select	NP_071731.1:p.Glu269Lys