Canonical Allele Identifier: CA1825198

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 330711
• ClinVar RCV Id: RCV000301138 ; RCV001134066
• dbSNP Id: rs375891208
• ExAC: 2:109546604 G / A
• gnomAD v2: 2-109546604-G-A
• gnomAD v3: 2-108930148-G-A
• gnomAD v4: 2-108930148-G-A
• COSMIC: COSM4467076 ; COSM4467077
• MyVariant Identifiers: chr2:g.109546604G>A (hg19) ; chr2:g.108930148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108930148G>A , CM000664.2:g.108930148G>A	GRCh38
NC_000002.11:g.109546604G>A , CM000664.1:g.109546604G>A	GRCh37
NC_000002.10:g.108913036G>A	NCBI36
NG_008257.1:g.64225C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.146C>T (EDAR) MANE Select	ENSP00000258443.2:p.Pro49Leu
ENST00000258443.6:c.146C>T (EDAR)	ENSP00000258443.2:p.Pro49Leu
ENST00000376651.1:c.146C>T (EDAR)	ENSP00000365839.1:p.Pro49Leu
ENST00000409271.5:c.146C>T (EDAR)	ENSP00000386371.1:p.Pro49Leu
NM_022336.3:c.146C>T (EDAR)	NP_071731.1:p.Pro49Leu
XM_006712204.1:c.146C>T (EDAR)	XP_006712267.1:p.Pro49Leu
XM_011510502.1:c.197C>T (EDAR)	XP_011508804.1:p.Pro66Leu
XM_011510503.1:c.197C>T (EDAR)	XP_011508805.1:p.Pro66Leu
XM_011510502.2:c.290C>T (EDAR)	XP_011508804.2:p.Pro97Leu
XM_011510503.2:c.290C>T (EDAR)	XP_011508805.2:p.Pro97Leu
XM_017004623.2:c.8370+157102G>A (RANBP2)	XP_016860112.1:n.8370+157102G>A
NM_022336.4:c.146C>T (EDAR) MANE Select	NP_071731.1:p.Pro49Leu