Canonical Allele Identifier: CA10588307

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 265471
• ClinVar RCV Id: RCV000254918 ; RCV001389818 ; RCV001808722
• dbSNP Id: rs886039564
• gnomAD v4: 2-108897181-C-T
• COSMIC: COSM2982733 ; COSM4301899
• MyVariant Identifiers: chr2:g.109513637C>T (hg19) ; chr2:g.108897181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897181C>T , CM000664.2:g.108897181C>T	GRCh38
NC_000002.11:g.109513637C>T , CM000664.1:g.109513637C>T	GRCh37
NC_000002.10:g.108880069C>T	NCBI36
NG_008257.1:g.97192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1073G>A (EDAR) MANE Select	ENSP00000258443.2:p.Arg358Gln
ENST00000258443.6:c.1073G>A (EDAR)	ENSP00000258443.2:p.Arg358Gln
ENST00000376651.1:c.1169G>A (EDAR)	ENSP00000365839.1:p.Arg390Gln
ENST00000409271.5:c.1169G>A (EDAR)	ENSP00000386371.1:p.Arg390Gln
NM_022336.3:c.1073G>A (EDAR)	NP_071731.1:p.Arg358Gln
XM_006712204.1:c.1169G>A (EDAR)	XP_006712267.1:p.Arg390Gln
XM_011510502.1:c.1220G>A (EDAR)	XP_011508804.1:p.Arg407Gln
XM_011510503.1:c.1124G>A (EDAR)	XP_011508805.1:p.Arg375Gln
XM_011510504.1:c.500G>A (EDAR)	XP_011508806.1:p.Arg167Gln
XM_011510502.2:c.1313G>A (EDAR)	XP_011508804.2:p.Arg438Gln
XM_011510503.2:c.1217G>A (EDAR)	XP_011508805.2:p.Arg406Gln
XM_017004623.2:c.8370+124135C>T (RANBP2)	XP_016860112.1:n.8370+124135C>T
NM_022336.4:c.1073G>A (EDAR) MANE Select	NP_071731.1:p.Arg358Gln